E52K (p.Glu52Lys) variant of REEP1 (Q9H902)
E52K (p.Glu52Lys) 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.
E52K (p.Glu52Lys) variant details
- p.Glu52Lys
- rs2104303049
- ClinGen CA347719990
- ClinVar RCV001531493
- Ensembl rs2104303049
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available