Is CARD14 p.Phe679= (c.2037C>T) pathogenic?

CARD14 p.Phe679= (c.2037C>T) is classified Likely benign in CARD14 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-01-05). Absent from gnomAD v4.1; Associated with psoriasis 2.

What condition is associated with CARD14 p.Phe679= (c.2037C>T)?

CARD14 p.Phe679= (c.2037C>T) is associated with psoriasis 2, pityriasis rubra pilaris (ClinVar).

How common is CARD14 p.Phe679= (c.2037C>T) in the general population?

CARD14 p.Phe679= (c.2037C>T) is absent from gnomAD v4.1 (gnomAD).

CARD14 p.Phe679=

c.2037C>T · rs2510722807 · VCV2921964

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

psoriasis 2

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.037	moderately benign-leaning
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 2.1	GERP 0.3, phastCons 1
Overall
CADD	17.56	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: CARD14
Protein: p.Phe679=
Coding: c.2037C>T
MANE Select: NM_001366385
dbSNP: rs2510722807
Type: single nucleotide variant
Location: chr17:80202238 (GRCh38)

Full CARD14 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

psoriasis 2 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: pityriasis rubra pilaris

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/card14-p-phe679 (accessed [today's date]).

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