Y41H (p.Tyr41His) variant of LBR (Delta(14)-sterol reductase LBR)
Y41H (p.Tyr41His) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
Y41H (p.Tyr41His) variant details
- p.Tyr41His
- Ensembl rs2096133698
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available