A35G (p.Ala35Gly) variant of PMS1 (PMS1 protein homolog 1)
A35G (p.Ala35Gly) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A35G (p.Ala35Gly) variant details
- p.Ala35Gly
- gnomAD 2-189791913-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.89
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.0895
- Literature evidence available