A43D (p.Ala43Asp) variant of PROC (Vitamin K-dependent protein C)
A43D (p.Ala43Asp) in PROC (Vitamin K-dependent protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
A43D (p.Ala43Asp) variant details
- p.Ala43Asp
- gnomAD 2-127421340-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.72
- CADD 23.80
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available