G48R (p.Gly48Arg) variant of PMS1 (PMS1 protein homolog 1)
G48R (p.Gly48Arg) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G48R (p.Gly48Arg) variant details
- p.Gly48Arg
- TOPMed rs2049301792
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.86
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.0783