P5R (p.Pro5Arg) variant of PMS1 (PMS1 protein homolog 1)
P5R (p.Pro5Arg) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P5R (p.Pro5Arg) variant details
- p.Pro5Arg
- gnomAD 2-189791823-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.85
- CADD 26.30
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.73
- Literature evidence available