R63K (p.Arg63Lys) variant of LBR (Delta(14)-sterol reductase LBR)
R63K (p.Arg63Lys) in LBR (Delta(14)-sterol reductase LBR) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R63K (p.Arg63Lys) variant details
- p.Arg63Lys
- gnomAD rs924146540
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 23.00
- PolyPhen-2 0.44
- SIFT 0.11
- UniProt: Variant assessed as somatic; high impact.
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available