G58V (p.Gly58Val) variant of PMS1 (PMS1 protein homolog 1)
G58V (p.Gly58Val) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G58V (p.Gly58Val) variant details
- p.Gly58Val
- gnomAD 2-189795809-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.99
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.267
- Literature evidence available