R32L (p.Arg32Leu) variant of PROC (Vitamin K-dependent protein C)
R32L (p.Arg32Leu) in PROC (Vitamin K-dependent protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R32L (p.Arg32Leu) variant details
- p.Arg32Leu
- gnomAD 2-127421307-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.42
- CADD 8.78
- PolyPhen-2 0.12
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available