Q44K (p.Gln44Lys) variant of SDHAF2 (Q9NX18)
Q44K (p.Gln44Lys) in SDHAF2 (Q9NX18) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q44K (p.Gln44Lys) variant details
- p.Gln44Lys
- Ensembl rs2134892271
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available