I157F (p.Ile157Phe) variant of SPTBN2 (O15020)
I157F (p.Ile157Phe) 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.
I157F (p.Ile157Phe) variant details
- p.Ile157Phe
- rs2135521053
- ClinGen CA381483577
- ClinVar RCV002265437
- Ensembl rs2135521053
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance