T59S (p.Thr59Ser) variant of CHD7 (Q9P2D1)
T59S (p.Thr59Ser) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T59S (p.Thr59Ser) variant details
- p.Thr59Ser
- rs548706525
- ClinGen CA4759270
- NCI-TCGA Cosmic COSV1014
- cosmic curated COSV10141
- Benign/Likely benign
- not specified; CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.10
- MetaLR 0.09
- MetaSVM -1.11
- CADD 13.80
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Benign/Likely benign (not specified; CHARGE syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)