N57Y (p.Asn57Tyr) variant of PMS1 (PMS1 protein homolog 1)
N57Y (p.Asn57Tyr) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N57Y (p.Asn57Tyr) variant details
- p.Asn57Tyr
- gnomAD 2-189795805-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.94
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.18
- Literature evidence available