S41N (p.Ser41Asn) variant of CHM (P24386)
S41N (p.Ser41Asn) in CHM (P24386) 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 and structural context.
S41N (p.Ser41Asn) variant details
- p.Ser41Asn
- Ensembl rs1931628939
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.12
- MetaLR 0.08
- MetaSVM -1.09
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 0.77
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.6e-05)
- Structural context available