A66T (p.Ala66Thr) variant of PMS1 (PMS1 protein homolog 1)
A66T (p.Ala66Thr) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A66T (p.Ala66Thr) variant details
- p.Ala66Thr
- Ensembl rs2049307101
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.40
- CADD 18.40
- PolyPhen-2 0.01
- SIFT 0.48
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.069