D78N (p.Asp78Asn) variant of PROC (Vitamin K-dependent protein C)
D78N (p.Asp78Asn) in PROC (Vitamin K-dependent protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
D78N (p.Asp78Asn) variant details
- p.Asp78Asn
- ExAC rs749192814
- TOPMed rs749192814
- gnomAD rs749192814
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.22
- CADD 18.10
- PolyPhen-2 0.04
- SIFT 0.32
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available