S19N (p.Ser19Asn) variant of LBR (Delta(14)-sterol reductase LBR)
S19N (p.Ser19Asn) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
S19N (p.Ser19Asn) variant details
- p.Ser19Asn
- gnomAD rs1408381788
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.93
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available