S73A (p.Ser73Ala) variant of LBR (Delta(14)-sterol reductase LBR)
S73A (p.Ser73Ala) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S73A (p.Ser73Ala) variant details
- p.Ser73Ala
- ExAC rs760953170
- gnomAD rs760953170
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 22.80
- PolyPhen-2 0.52
- SIFT 0.19
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available