S32N (p.Ser32Asn) variant of LBR (Delta(14)-sterol reductase LBR)
S32N (p.Ser32Asn) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S32N (p.Ser32Asn) variant details
- p.Ser32Asn
- gnomAD rs1382928751
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.16
- ESM-1b 0.09
- AlphaMissense 0.07
- CADD 16.70
- PolyPhen-2 0.01
- SIFT 0.22
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available