I29F (p.Ile29Phe) variant of PMS1 (PMS1 protein homolog 1)
I29F (p.Ile29Phe) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I29F (p.Ile29Phe) variant details
- p.Ile29Phe
- gnomAD rs1162761263
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.76
- CADD 23.20
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.251