Q36R (p.Gln36Arg) variant of CHD2 (O14647)
Q36R (p.Gln36Arg) in CHD2 (O14647) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
Q36R (p.Gln36Arg) variant details
- p.Gln36Arg
- TOPMed rs1064794584
- gnomAD rs1064794584
- Uncertain significance
- Missense
- MetaLR 0.46
- MetaSVM -0.42
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available