P67S (p.Pro67Ser) variant of PMS1 (PMS1 protein homolog 1)
P67S (p.Pro67Ser) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
P67S (p.Pro67Ser) variant details
- p.Pro67Ser
- ExAC rs777322683
- gnomAD rs777322683
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.32
- CADD 21.40
- PolyPhen-2 0.44
- SIFT 0.14
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available