S15S (p.Ser15Ser) variant of PMS1 (PMS1 protein homolog 1)
S15S (p.Ser15Ser) in PMS1 (PMS1 protein homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S15S (p.Ser15Ser) variant details
- p.Ser15Ser
- rs377616727
- gnomAD 2-189791854-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.545
- CADD 12.50
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.408
- Literature evidence available