N52S (p.Asn52Ser) variant of LBR (Delta(14)-sterol reductase LBR)
N52S (p.Asn52Ser) in LBR (Delta(14)-sterol reductase LBR) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
N52S (p.Asn52Ser) variant details
- p.Asn52Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 2.78
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available