I29S (p.Ile29Ser) variant of PMS1 (PMS1 protein homolog 1)
I29S (p.Ile29Ser) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I29S (p.Ile29Ser) variant details
- p.Ile29Ser
- gnomAD 2-189791895-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.90
- CADD 31.00
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.251
- Literature evidence available