S78R (p.Ser78Arg) variant of LBR (Delta(14)-sterol reductase LBR)
S78R (p.Ser78Arg) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S78R (p.Ser78Arg) variant details
- p.Ser78Arg
- 1000Genomes rs539965123
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.83
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.31
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available