R10R (p.Arg10Arg) variant of PMS1 (PMS1 protein homolog 1)
R10R (p.Arg10Arg) in PMS1 (PMS1 protein homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R10R (p.Arg10Arg) variant details
- p.Arg10Arg
- gnomAD 2-189791839-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.366
- CADD 11.10
- 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