G60D (p.Gly60Asp) variant of PMS1 (PMS1 protein homolog 1)
G60D (p.Gly60Asp) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G60D (p.Gly60Asp) variant details
- p.Gly60Asp
- gnomAD rs1298812483
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.99
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.117