T38T (p.Thr38Thr) variant of PMS1 (PMS1 protein homolog 1)
T38T (p.Thr38Thr) in PMS1 (PMS1 protein homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T38T (p.Thr38Thr) variant details
- p.Thr38Thr
- rs758112220
- gnomAD 2-189791923-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.477
- CADD 11.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.504
- Literature evidence available