V25I (p.Val25Ile) variant of PMS1 (PMS1 protein homolog 1)
V25I (p.Val25Ile) in PMS1 (PMS1 protein homolog 1) 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, experimental measurements, and structural context.
V25I (p.Val25Ile) variant details
- p.Val25Ile
- TOPMed rs1224767088
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.39
- CADD 25.20
- PolyPhen-2 0.76
- SIFT 0.04
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.531