E12K (p.Glu12Lys) variant of CHD7 (Q9P2D1)
E12K (p.Glu12Lys) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E12K (p.Glu12Lys) variant details
- p.Glu12Lys
- rs769949098
- ClinGen CA4759255
- NCI-TCGA Cosmic COSV7110
- cosmic curated COSV71107
- Likely benign
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.34
- MetaLR 0.15
- MetaSVM -0.75
- CADD 24.30
- PolyPhen-2 0.17
- SIFT 0.00
- ClinVar: Likely benign (CHARGE syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)