S39G (p.Ser39Gly) variant of PMS1 (PMS1 protein homolog 1)
S39G (p.Ser39Gly) in PMS1 (PMS1 protein homolog 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S39G (p.Ser39Gly) variant details
- p.Ser39Gly
- ESP rs113193813
- TOPMed rs113193813
- gnomAD rs113193813
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.65
- CADD 24.40
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.104