A7V (p.Ala7Val) variant of LBR (Delta(14)-sterol reductase LBR)
A7V (p.Ala7Val) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- Ensembl rs2150960211
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.19
- Structural context available