G83R (p.Gly83Arg) variant of REEP1 (Q9H902)
G83R (p.Gly83Arg) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
G83R (p.Gly83Arg) variant details
- p.Gly83Arg
- rs2104244562
- ClinGen CA347717302
- ClinVar RCV001730317
- Ensembl rs2104244562
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.95
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available