S99F (p.Ser99Phe) variant of LBR (Delta(14)-sterol reductase LBR)
S99F (p.Ser99Phe) 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 0.40 / 1. The record also includes structural context.
S99F (p.Ser99Phe) variant details
- p.Ser99Phe
- NCI-TCGA Cosmic COSV5528
- cosmic curated COSV55288
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- ESM-1b 0.17
- AlphaMissense 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available