D56G (p.Asp56Gly) variant of PMS1 (PMS1 protein homolog 1)
D56G (p.Asp56Gly) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D56G (p.Asp56Gly) variant details
- p.Asp56Gly
- ESP rs377024581
- ExAC rs377024581
- TOPMed rs377024581
- gnomAD rs377024581
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.96
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.316