I18V (p.Ile18Val) variant of PMS1 (PMS1 protein homolog 1)
I18V (p.Ile18Val) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I18V (p.Ile18Val) variant details
- p.Ile18Val
- Ensembl rs2106212892
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.44
- CADD 25.10
- PolyPhen-2 0.92
- 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 -0.438