N135K (p.Asn135Lys) variant of SMARCE1 (Q969G3)
N135K (p.Asn135Lys) in SMARCE1 (Q969G3) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
N135K (p.Asn135Lys) variant details
- p.Asn135Lys
- TOPMed rs888304315
- gnomAD rs888304315
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available