A43P (p.Ala43Pro) variant of PROC (Vitamin K-dependent protein C)
A43P (p.Ala43Pro) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
A43P (p.Ala43Pro) variant details
- p.Ala43Pro
- ExAC rs767626189
- TOPMed rs767626189
- gnomAD rs767626189
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.81
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.04
- EBI: Variant of uncertain significance (in dbSNP:rs767626189)
- UniProt: Uncertain significance (in dbSNP:rs767626189)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available