L1748R (p.Leu1748Arg) variant of CHD7 (Q9P2D1)
L1748R (p.Leu1748Arg) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Wiedemann-Steiner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
L1748R (p.Leu1748Arg) variant details
- p.Leu1748Arg
- rs1586437186
- ClinGen CA371320827
- ClinVar RCV001261224
- Ensembl rs1586437186
- Pathogenic
- Wiedemann-Steiner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- AlphaMissense 1.00
- MetaLR 0.77
- MetaSVM 0.74
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Pathogenic (Wiedemann-Steiner syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Wiedemann-Steiner Syndrome. (PMID 35617449)