S30N (p.Ser30Asn) variant of PROC (Vitamin K-dependent protein C)
S30N (p.Ser30Asn) in PROC (Vitamin K-dependent protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S30N (p.Ser30Asn) variant details
- p.Ser30Asn
- gnomAD 2-127421301-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.36
- CADD 22.20
- PolyPhen-2 0.56
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available