V25L (p.Val25Leu) variant of PMS1 (PMS1 protein homolog 1)
V25L (p.Val25Leu) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V25L (p.Val25Leu) variant details
- p.Val25Leu
- TOPMed rs1224767088
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.70
- CADD 25.70
- PolyPhen-2 0.79
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.531