N52K (p.Asn52Lys) variant of LBR (Delta(14)-sterol reductase LBR)
N52K (p.Asn52Lys) in LBR (Delta(14)-sterol reductase LBR) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
N52K (p.Asn52Lys) variant details
- p.Asn52Lys
- TOPMed rs920973479
- gnomAD rs920973479
- NCI-TCGA Cosmic COSV9968
- cosmic curated COSV99687
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.27
- CADD 21.60
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available