V40V (p.Val40Val) variant of PMS1 (PMS1 protein homolog 1)
V40V (p.Val40Val) in PMS1 (PMS1 protein homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V40V (p.Val40Val) variant details
- p.Val40Val
- rs1352280321
- gnomAD 2-189791929-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.446
- CADD 11.60
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.387
- Literature evidence available