D31N (p.Asp31Asn) variant of LBR (Delta(14)-sterol reductase LBR)
D31N (p.Asp31Asn) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
D31N (p.Asp31Asn) variant details
- p.Asp31Asn
- ESP rs149920625
- ExAC rs149920625
- TOPMed rs149920625
- gnomAD rs149920625
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 23.40
- PolyPhen-2 0.51
- SIFT 0.11
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available