L21F (p.Leu21Phe) variant of LBR (Delta(14)-sterol reductase LBR)
L21F (p.Leu21Phe) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
L21F (p.Leu21Phe) variant details
- p.Leu21Phe
- gnomAD rs1355280287
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.59
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available