L1020S (p.Leu1020Ser) variant of CHD7 (Q9P2D1)
L1020S (p.Leu1020Ser) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; CHD7-related CHARGE syndrome; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
L1020S (p.Leu1020Ser) variant details
- p.Leu1020Ser
- rs1057521077
- ClinGen CA16605400
- ClinVar RCV000445135
- ClinVar RCV001266874
- Pathogenic/Likely pathogenic
- not provided; CHD7-related CHARGE syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.939
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Pathogenic/Likely pathogenic (not provided; CHD7-related CHARGE syndrome; Inborn genetic disea)
- EBI: Pathogenic (in CHARGES)
- UniProt: Pathogenic (in CHARGES)
- Structural context available
- Cited in: CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin. (PMID 21554267)
- Cited in: Mutation update on the CHD7 gene involved in CHARGE syndrome. (PMID 22461308)