T38R (p.Thr38Arg) variant of PMS1 (PMS1 protein homolog 1)
T38R (p.Thr38Arg) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T38R (p.Thr38Arg) variant details
- p.Thr38Arg
- gnomAD 2-189791922-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.72
- CADD 25.50
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.504
- Literature evidence available