S14G (p.Ser14Gly) variant of PMS1 (PMS1 protein homolog 1)
S14G (p.Ser14Gly) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S14G (p.Ser14Gly) variant details
- p.Ser14Gly
- ExAC rs775649361
- TOPMed rs775649361
- gnomAD rs775649361
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.95
- CADD 28.60
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.0625