T19S (p.Thr19Ser) variant of PMS1 (PMS1 protein homolog 1)
T19S (p.Thr19Ser) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T19S (p.Thr19Ser) variant details
- p.Thr19Ser
- 1000Genomes rs534847551
- ExAC rs534847551
- TOPMed rs534847551
- gnomAD rs534847551
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.52
- CADD 23.50
- PolyPhen-2 0.94
- SIFT 0.07
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score 0.0083