S57C (p.Ser57Cys) variant of CHM (P24386)
S57C (p.Ser57Cys) in CHM (P24386) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S57C (p.Ser57Cys) variant details
- p.Ser57Cys
- ExAC rs751446986
- TOPMed rs751446986
- gnomAD rs751446986
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.34
- MetaLR 0.35
- MetaSVM -0.34
- CADD 25.10
- PolyPhen-2 0.64
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 0.00031)
- Structural context available