T8R (p.Thr8Arg) variant of PMS1 (PMS1 protein homolog 1)
T8R (p.Thr8Arg) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T8R (p.Thr8Arg) variant details
- p.Thr8Arg
- gnomAD 2-189791832-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.93
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.66
- Literature evidence available