S39T (p.Ser39Thr) variant of PMS1 (PMS1 protein homolog 1)
S39T (p.Ser39Thr) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S39T (p.Ser39Thr) variant details
- p.Ser39Thr
- TOPMed rs2048904085
- gnomAD rs2048904085
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.30
- CADD 23.20
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.104