A37S (p.Ala37Ser) variant of PMS1 (PMS1 protein homolog 1)
A37S (p.Ala37Ser) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A37S (p.Ala37Ser) variant details
- p.Ala37Ser
- TOPMed rs973362695
- gnomAD rs973362695
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.68
- CADD 26.50
- PolyPhen-2 0.95
- SIFT 0.05
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.459