F45V (p.Phe45Val) variant of REEP1 (Q9H902)
F45V (p.Phe45Val) 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 0.68 / 1. The record also includes structural context.
F45V (p.Phe45Val) variant details
- p.Phe45Val
- rs1387169886
- ClinGen CA347720059
- ClinVar RCV001771307
- gnomAD rs1387169886
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- AlphaMissense 1.00
- MetaLR 0.83
- MetaSVM 0.72
- PolyPhen-2 0.20
- SIFT 0.00
- EVE 0.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available