A178T (p.Ala178Thr) variant of SPTBN2 (O15020)
A178T (p.Ala178Thr) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided.
A178T (p.Ala178Thr) variant details
- p.Ala178Thr
- rs1057524761
- ClinGen CA16606980
- ClinVar RCV000423934
- gnomAD rs1057524761
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic