I27V (p.Ile27Val) variant of LBR (Delta(14)-sterol reductase LBR)
I27V (p.Ile27Val) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
I27V (p.Ile27Val) variant details
- p.Ile27Val
- gnomAD rs1214241760
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 14.10
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available