L997S (p.Leu997Ser) variant of CHD7 (Q9P2D1)
L997S (p.Leu997Ser) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
L997S (p.Leu997Ser) variant details
- p.Leu997Ser
- rs2150750132
- ClinGen CA371309098
- ClinVar RCV002272642
- Ensembl rs2150750132
- Likely pathogenic
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Likely pathogenic (CHARGE syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)