I29I (p.Ile29Ile) variant of PMS1 (PMS1 protein homolog 1)
I29I (p.Ile29Ile) in PMS1 (PMS1 protein homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I29I (p.Ile29Ile) variant details
- p.Ile29Ile
- gnomAD 2-189791896-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.494
- CADD 13.60
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.251
- Literature evidence available