E71D (p.Glu71Asp) variant of PROC (Vitamin K-dependent protein C)
E71D (p.Glu71Asp) in PROC (Vitamin K-dependent protein C) is a missense change. 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.
E71D (p.Glu71Asp) variant details
- p.Glu71Asp
- gnomAD rs1207902871
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.89
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available