T38I (p.Thr38Ile) variant of PMS1 (PMS1 protein homolog 1)
T38I (p.Thr38Ile) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T38I (p.Thr38Ile) variant details
- p.Thr38Ile
- gnomAD 2-189791922-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.84
- CADD 26.00
- PolyPhen-2 0.97
- 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