L28F (p.Leu28Phe) variant of SPTBN2 (O15020)
L28F (p.Leu28Phe) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided.
L28F (p.Leu28Phe) variant details
- p.Leu28Phe
- rs2496681462
- ClinGen CA381485216
- ClinVar RCV002797137
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance