V22I (p.Val22Ile) variant of PMS1 (PMS1 protein homolog 1)
V22I (p.Val22Ile) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V22I (p.Val22Ile) variant details
- p.Val22Ile
- gnomAD rs1247011280
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.51
- CADD 23.00
- PolyPhen-2 0.12
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.541