R10D (p.Arg10Asp) variant of PMS1 (PMS1 protein homolog 1)
R10D (p.Arg10Asp) in PMS1 (PMS1 protein homolog 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R10D (p.Arg10Asp) variant details
- p.Arg10Asp
- gnomAD 2-189791836-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.488
- CADD 26.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score 0.694
- Literature evidence available