V9I (p.Val9Ile) variant of PMS1 (PMS1 protein homolog 1)
V9I (p.Val9Ile) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V9I (p.Val9Ile) variant details
- p.Val9Ile
- gnomAD 2-189791834-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.23
- CADD 16.60
- PolyPhen-2 0.08
- SIFT 0.30
- Population evidence available
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.155
- Literature evidence available