Y47C (p.Tyr47Cys) variant of PMS1 (PMS1 protein homolog 1)
Y47C (p.Tyr47Cys) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Y47C (p.Tyr47Cys) variant details
- p.Tyr47Cys
- cosmic curated COSV59716
- ExAC rs756031414
- gnomAD rs756031414
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.50
- CADD 22.60
- PolyPhen-2 0.23
- SIFT 0.05
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.218