S13S (p.Ser13Ser) variant of PMS1 (PMS1 protein homolog 1)
S13S (p.Ser13Ser) in PMS1 (PMS1 protein homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S13S (p.Ser13Ser) variant details
- p.Ser13Ser
- rs2106212776
- gnomAD 2-189791848-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.164
- CADD 11.70
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.415
- Literature evidence available