G36A (p.Gly36Ala) variant of PMS1 (PMS1 protein homolog 1)
G36A (p.Gly36Ala) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
G36A (p.Gly36Ala) variant details
- p.Gly36Ala
- gnomAD 2-189791916-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.69
- CADD 23.60
- PolyPhen-2 0.41
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available