V11M (p.Val11Met) variant of PROC (Vitamin K-dependent protein C)
V11M (p.Val11Met) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
V11M (p.Val11Met) variant details
- p.Val11Met
- ESP rs368493458
- ExAC rs368493458
- TOPMed rs368493458
- gnomAD rs368493458
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.27
- CADD 0.11
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available