T1416R (p.Thr1416Arg) variant of CHD7 (Q9P2D1)
T1416R (p.Thr1416Arg) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
T1416R (p.Thr1416Arg) variant details
- p.Thr1416Arg
- rs770166812
- ClinGen CA16605494
- ClinVar RCV000434719
- ClinVar RCV001045040
- Likely pathogenic
- not provided; CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- AlphaMissense 1.00
- MetaLR 0.77
- MetaSVM 0.78
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.81
- ClinVar: Likely pathogenic (not provided; CHARGE syndrome)
- EBI: Likely pathogenic (in CHARGES)
- UniProt: Likely pathogenic (in CHARGES)
- Structural context available
- Cited in: Mutations in the CHD7 gene: the experience of a commercial laboratory. (PMID 21158681)
- Cited in: CHD7 Disorder. (PMID 20301296)