L33W (p.Leu33Trp) variant of PMS1 (PMS1 protein homolog 1)
L33W (p.Leu33Trp) in PMS1 (PMS1 protein homolog 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L33W (p.Leu33Trp) variant details
- p.Leu33Trp
- gnomAD 2-189791905-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.337
- CADD 23.50
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.696
- Literature evidence available