T8I (p.Thr8Ile) variant of PMS1 (PMS1 protein homolog 1)
T8I (p.Thr8Ile) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T8I (p.Thr8Ile) variant details
- p.Thr8Ile
- gnomAD rs1367989549
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.83
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.66