N44K (p.Asn44Lys) variant of PPARGC1A (Q9UBK2)
N44K (p.Asn44Lys) in PPARGC1A (Q9UBK2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
N44K (p.Asn44Lys) variant details
- p.Asn44Lys
- TOPMed rs897201437
- gnomAD rs897201437
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available