V42V (p.Val42Val) variant of PMS1 (PMS1 protein homolog 1)
V42V (p.Val42Val) in PMS1 (PMS1 protein homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V42V (p.Val42Val) variant details
- p.Val42Val
- rs769797470
- gnomAD 2-189791935-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.146
- CADD 9.19
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -1.2
- Literature evidence available