T19A (p.Thr19Ala) variant of PMS1 (PMS1 protein homolog 1)
T19A (p.Thr19Ala) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T19A (p.Thr19Ala) variant details
- p.Thr19Ala
- Ensembl rs2048897350
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.57
- CADD 25.30
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score 0.0083