A6G (p.Ala6Gly) variant of PMS1 (PMS1 protein homolog 1)
A6G (p.Ala6Gly) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A6G (p.Ala6Gly) variant details
- p.Ala6Gly
- ExAC rs747835603
- TOPMed rs747835603
- gnomAD rs747835603
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.42
- CADD 22.70
- PolyPhen-2 0.07
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.925