V22L (p.Val22Leu) variant of PMS1 (PMS1 protein homolog 1)
V22L (p.Val22Leu) in PMS1 (PMS1 protein homolog 1) 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 0.45 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V22L (p.Val22Leu) variant details
- p.Val22Leu
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10057
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.41
- CADD 22.10
- PolyPhen-2 0.05
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.541