D34W (p.Asp34Trp) variant of PMS1 (PMS1 protein homolog 1)
D34W (p.Asp34Trp) in PMS1 (PMS1 protein homolog 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D34W (p.Asp34Trp) variant details
- p.Asp34Trp
- rs1177278769
- gnomAD 2-189791906-T-TTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.389
- CADD 28.70
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.467
- Literature evidence available