V68I (p.Val68Ile) variant of PMS1 (PMS1 protein homolog 1)
V68I (p.Val68Ile) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
V68I (p.Val68Ile) variant details
- p.Val68Ile
- gnomAD rs1252188244
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.50
- CADD 25.80
- PolyPhen-2 0.95
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available