A70T (p.Ala70Thr) variant of PMS1 (PMS1 protein homolog 1)
A70T (p.Ala70Thr) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
A70T (p.Ala70Thr) variant details
- p.Ala70Thr
- cosmic curated COSV59716
- ExAC rs753676547
- TOPMed rs753676547
- gnomAD rs753676547
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.54
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available