I17V (p.Ile17Val) variant of PMS1 (PMS1 protein homolog 1)
I17V (p.Ile17Val) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I17V (p.Ile17Val) variant details
- p.Ile17Val
- ESP rs151231718
- ExAC rs151231718
- TOPMed rs151231718
- gnomAD rs151231718
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.28
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.768