Q61E (p.Gln61Glu) variant of CHD7 (Q9P2D1)
Q61E (p.Gln61Glu) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of CHARGE syndrome. The record also includes variant effect predictions and structural context.
Q61E (p.Gln61Glu) variant details
- p.Gln61Glu
- NCI-TCGA Cosmic COSV7110
- cosmic curated COSV71108
- Uncertain significance
- CHARGE syndrome
- Missense
- MetaLR 0.10
- MetaSVM -0.98
- SIFT 0.00
- ClinVar: Uncertain significance (CHARGE syndrome)
- UniProt: Uncertain significance
- Structural context available