V22V (p.Val22Val) variant of PMS1 (PMS1 protein homolog 1)
V22V (p.Val22Val) in PMS1 (PMS1 protein homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V22V (p.Val22Val) variant details
- p.Val22Val
- gnomAD 2-189791875-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 16.50
- Population evidence available
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.541
- Literature evidence available