T19T (p.Thr19Thr) variant of PMS1 (PMS1 protein homolog 1)
T19T (p.Thr19Thr) in PMS1 (PMS1 protein homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T19T (p.Thr19Thr) variant details
- p.Thr19Thr
- gnomAD 2-189791866-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.142
- CADD 8.69
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score 0.0083
- Literature evidence available