D105N (p.Asp105Asn) variant of LBR (Delta(14)-sterol reductase LBR)
D105N (p.Asp105Asn) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
D105N (p.Asp105Asn) variant details
- p.Asp105Asn
- cosmic curated COSV10808
- 1000Genomes rs557489420
- ExAC rs557489420
- TOPMed rs557489420
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 6.17
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available