K79R (p.Lys79Arg) variant of CHD7 (Q9P2D1)
K79R (p.Lys79Arg) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
K79R (p.Lys79Arg) variant details
- p.Lys79Arg
- rs1064796792
- ClinGen CA16618650
- ClinVar RCV000478136
- Ensembl rs1064796792
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available