R10Q (p.Arg10Gln) variant of PMS1 (PMS1 protein homolog 1)
R10Q (p.Arg10Gln) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R10Q (p.Arg10Gln) variant details
- p.Arg10Gln
- cosmic curated COSV59715
- 1000Genomes rs370084230
- ESP rs370084230
- ExAC rs370084230
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.78
- CADD 31.00
- PolyPhen-2 0.82
- 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 0.694