I106V (p.Ile106Val) variant of LBR (Delta(14)-sterol reductase LBR)
I106V (p.Ile106Val) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
I106V (p.Ile106Val) variant details
- p.Ile106Val
- 1000Genomes rs200648839
- ExAC rs200648839
- TOPMed rs200648839
- gnomAD rs200648839
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.83
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available