R4S (p.Arg4Ser) variant of LBR (Delta(14)-sterol reductase LBR)
R4S (p.Arg4Ser) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R4S (p.Arg4Ser) variant details
- p.Arg4Ser
- gnomAD rs1274464371
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.56
- CADD 21.40
- PolyPhen-2 0.52
- SIFT 0.19
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available