R71K (p.Arg71Lys) variant of MMADHC (Q9H3L0)
R71K (p.Arg71Lys) in MMADHC (Q9H3L0) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria and homocystinuria type cblD. The record also includes structural context.
R71K (p.Arg71Lys) variant details
- p.Arg71Lys
- cosmic curated COSV10514
- Uncertain significance
- Methylmalonic aciduria and homocystinuria type cblD
- Missense
- ClinVar: Uncertain significance (Methylmalonic aciduria and homocystinuria type cblD)
- UniProt: Uncertain significance
- Structural context available