P6L (p.Pro6Leu) variant of CHM (P24386)
P6L (p.Pro6Leu) in CHM (P24386) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- rs201252021
- NCI-TCGA Cosmic COSV6256
- cosmic curated COSV62565
- ExAC rs201252021
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.42
- MetaLR 0.38
- MetaSVM -0.22
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available