L33V (p.Leu33Val) variant of PMS1 (PMS1 protein homolog 1)
L33V (p.Leu33Val) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L33V (p.Leu33Val) variant details
- p.Leu33Val
- TOPMed rs1385709157
- gnomAD rs1385709157
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.72
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.696