S20N (p.Ser20Asn) variant of SPTBN2 (O15020)
S20N (p.Ser20Asn) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases.
S20N (p.Ser20Asn) variant details
- p.Ser20Asn
- TOPMed rs1023961480
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance