A69V (p.Ala69Val) variant of PROC (Vitamin K-dependent protein C)
A69V (p.Ala69Val) 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 Thrombophilia due to protein C deficiency, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
A69V (p.Ala69Val) variant details
- p.Ala69Val
- rs984698204
- ClinGen CA55343052
- ClinVar RCV001238309
- TOPMed rs984698204
- Uncertain significance
- Thrombophilia due to protein C deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.66
- CADD 23.50
- PolyPhen-2 0.60
- SIFT 0.07
- ClinVar: Uncertain significance (Thrombophilia due to protein C deficiency, autosomal dominant)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available