V54V (p.Val54Val) variant of PMS1 (PMS1 protein homolog 1)
V54V (p.Val54Val) in PMS1 (PMS1 protein homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V54V (p.Val54Val) variant details
- p.Val54Val
- gnomAD 2-189795798-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0918
- CADD 1.57
- 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 -0.331
- Literature evidence available