P17A (p.Pro17Ala) variant of LBR (Delta(14)-sterol reductase LBR)
P17A (p.Pro17Ala) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data and structural context.
P17A (p.Pro17Ala) variant details
- p.Pro17Ala
- 1000Genomes rs188150385
- ExAC rs188150385
- gnomAD rs188150385
- Missense
- Variant Prioritization Score for Impact Estimate 0.93
- ESM-1b 1.00
- AlphaMissense 0.85
- Population evidence available
- Structural context available