T38N (p.Thr38Asn) variant of LBR (Delta(14)-sterol reductase LBR)
T38N (p.Thr38Asn) in LBR (Delta(14)-sterol reductase LBR) is a missense change. Clinical records from ClinVar, EBI, 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 0.36 / 1. The record also includes population frequency data and structural context.
T38N (p.Thr38Asn) variant details
- p.Thr38Asn
- ExAC rs555819295
- TOPMed rs555819295
- gnomAD rs555819295
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.26
- ESM-1b 1.00
- AlphaMissense 0.21
- CADD 22.50
- PolyPhen-2 0.10
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available