P6S (p.Pro6Ser) variant of CHM (P24386)
P6S (p.Pro6Ser) in CHM (P24386) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
P6S (p.Pro6Ser) variant details
- p.Pro6Ser
- cosmic curated COSV62566
- Ensembl rs1934696473
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.36
- MetaLR 0.42
- MetaSVM -0.09
- CADD 24.90
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available