S39S (p.Ser39Ser) variant of PMS1 (PMS1 protein homolog 1)
S39S (p.Ser39Ser) in PMS1 (PMS1 protein homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S39S (p.Ser39Ser) variant details
- p.Ser39Ser
- rs777358818
- gnomAD 2-189791926-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 13.70
- 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 -0.104
- Literature evidence available