A70S (p.Ala70Ser) variant of PMS1 (PMS1 protein homolog 1)
A70S (p.Ala70Ser) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
A70S (p.Ala70Ser) variant details
- p.Ala70Ser
- ExAC rs753676547
- TOPMed rs753676547
- gnomAD rs753676547
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.63
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available