L1257R (p.Leu1257Arg) variant of CHD7 (Q9P2D1)
L1257R (p.Leu1257Arg) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
L1257R (p.Leu1257Arg) variant details
- p.Leu1257Arg
- rs121434339
- ClinGen CA252051
- ClinVar RCV000002101
- UniProt VAR 021060
- Pathogenic
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic (CHARGE syndrome)
- EBI: Pathogenic (in CHARGES)
- UniProt: Pathogenic (in CHARGES)
- Structural context available
- Cited in: Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. (PMID 15300250)
- Cited in: CHD7 Disorder. (PMID 20301296)