V21V (p.Val21Val) variant of PMS1 (PMS1 protein homolog 1)
V21V (p.Val21Val) in PMS1 (PMS1 protein homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V21V (p.Val21Val) variant details
- p.Val21Val
- rs754498304
- gnomAD 2-189791872-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.35
- CADD 10.10
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.446
- Literature evidence available