Is VWF p.Arg960Pro (c.2879_2880delinsCA) pathogenic?

VWF p.Arg960Pro (c.28792880delinsCA) is classified Uncertain significance in VWF (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-05-08). No gnomAD frequency available for this variant.

How common is VWF p.Arg960Pro (c.2879_2880delinsCA) in the general population?

VWF p.Arg960Pro (c.2879_2880delinsCA) is no gnomAD frequency available for this variant (gnomAD).

VWF p.Arg960Pro

c.2879_2880delinsCA · rs2497545591 · VCV2682102

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -4	GERP -4.5
Regional constraint	o/e 0.96	unconstrained · MANE · 97 kb · p 0.18 · regional, not allelic

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: VWF
Protein: p.Arg960Pro
Coding: c.2879_2880delinsCA
MANE Select: NM_000552
dbSNP: rs2497545591
Type: Indel
Location: chr12:6029429 (GRCh38)
Gene constraint: LOEUF 0.639 · pLI <0.01 (gnomAD)
Residue 960: the vwfd 3 domain

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

Similar variants

VWF p.Arg960Trp Uncertain significance ★★ same residue
VWF p.Arg960= Benign/Likely benign ★★ same residue
VWF p.Cys331Ter Pathogenic ★★ same type
VWF c.324-14_324-8delinsAAGTTCAGAGTCT Uncertain significance ★ same type
VWF c.7288-1_7289delinsTAA Uncertain significance ★ same type
VWF p.Cys521Ser Conflicting classifications of pathogenicity ★ same type
VWF p.Gln852Gly Uncertain significance ★ same type
VWF p.His484Ser Uncertain significance ★ same type

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/vwf-p-arg960pro (accessed [today's date]).

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