I29T (p.Ile29Thr) variant of PMS1 (PMS1 protein homolog 1)
I29T (p.Ile29Thr) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I29T (p.Ile29Thr) variant details
- p.Ile29Thr
- gnomAD rs1198535898
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.82
- CADD 26.70
- PolyPhen-2 0.49
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.251