S67L (p.Ser67Leu) variant of LBR (Delta(14)-sterol reductase LBR)
S67L (p.Ser67Leu) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
S67L (p.Ser67Leu) variant details
- p.Ser67Leu
- gnomAD rs2096128936
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 32.00
- PolyPhen-2 0.63
- SIFT 0.01
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available