L49V (p.Leu49Val) variant of LBR (Delta(14)-sterol reductase LBR)
L49V (p.Leu49Val) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L49V (p.Leu49Val) variant details
- p.Leu49Val
- gnomAD rs1448407807
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.41
- ESM-1b 0.29
- AlphaMissense 0.39
- CADD 13.80
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available