T8A (p.Thr8Ala) variant of PMS1 (PMS1 protein homolog 1)
T8A (p.Thr8Ala) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T8A (p.Thr8Ala) variant details
- p.Thr8Ala
- ExAC rs777641087
- TOPMed rs777641087
- gnomAD rs777641087
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.78
- CADD 26.10
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.66