I54V (p.Ile54Val) variant of LBR (Delta(14)-sterol reductase LBR)
I54V (p.Ile54Val) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
I54V (p.Ile54Val) variant details
- p.Ile54Val
- ExAC rs761536767
- gnomAD rs761536767
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 19.90
- PolyPhen-2 0.03
- SIFT 0.11
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available