L93F (p.Leu93Phe) variant of BBS2 (BBSome complex member BBS2)
L93F (p.Leu93Phe) in BBS2 (BBSome complex member BBS2) 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 0.35 / 1. The record also includes structural context.
L93F (p.Leu93Phe) variant details
- p.Leu93Phe
- rs886042185
- ClinGen CA10603910
- ClinVar RCV000379296
- Ensembl rs886042185
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- AlphaMissense 0.14
- MetaLR 0.16
- MetaSVM -0.94
- SIFT 0.09
- MutPred 0.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available