Y47H (p.Tyr47His) variant of PMS1 (PMS1 protein homolog 1)
Y47H (p.Tyr47His) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y47H (p.Tyr47His) variant details
- p.Tyr47His
- gnomAD 2-189795775-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.32
- CADD 23.50
- PolyPhen-2 0.05
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.218
- Literature evidence available