Is F11 p.Cys230= (c.690C>T) pathogenic?

F11 p.Cys230= (c.690C>T) is classified Uncertain significance in F11 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2025-01-31). Absent from gnomAD v4.1; Associated with Plasma factor XI deficiency.

What condition is associated with F11 p.Cys230= (c.690C>T)?

F11 p.Cys230= (c.690C>T) is associated with Plasma factor XI deficiency (ClinVar).

How common is F11 p.Cys230= (c.690C>T) in the general population?

F11 p.Cys230= (c.690C>T) is absent from gnomAD v4.1 (gnomAD).

F11 p.Cys230=

c.690C>T · VCV4067810

Uncertain significance No assertion criteria

Classification

Uncertain significance

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

Plasma factor XI deficiency

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.103	moderately benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -1.3	GERP -4.7, phastCons 0.002
Overall
CADD	5.756	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: F11
Protein: p.Cys230=
Coding: c.690C>T
MANE Select: NM_000128
Type: single nucleotide variant
Location: chr4:186276325 (GRCh38)
Gene constraint: LOEUF 1.145 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 86.94 · 117 PDB
Residue 230: an α-helix; a disulfide bond; the apple 3 domain

Full F11 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Plasma factor XI deficiency

Similar variants

F11 p.Cys230Ser Pathogenic/Likely pathogenic ★★ same residue
F11 p.Cys230Arg Likely pathogenic ★ same residue
F11 c.1136-1G>C Likely pathogenic ★★ same condition
F11 c.1481-1G>T Likely pathogenic ★★ same condition
F11 c.1716+1G>A Pathogenic ★★ same condition
F11 c.325+1G>A Pathogenic ★★ same condition
F11 c.326-1G>A Pathogenic ★★ same condition
F11 c.595+3A>G Pathogenic/Likely pathogenic ★★ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/f11-p-cys230 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown