G122R (p.Gly122Arg) variant of REEP1 (Q9H902)
G122R (p.Gly122Arg) in REEP1 (Q9H902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
G122R (p.Gly122Arg) variant details
- p.Gly122Arg
- TOPMed rs1409832832
- gnomAD rs1409832832
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.85
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available