S54N (p.Ser54Asn) variant of PROC (Vitamin K-dependent protein C)
S54N (p.Ser54Asn) in PROC (Vitamin K-dependent protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S54N (p.Ser54Asn) variant details
- p.Ser54Asn
- gnomAD 2-127421373-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.29
- CADD 0.40
- PolyPhen-2 0.06
- SIFT 0.41
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available