L24F (p.Leu24Phe) variant of CHD7 (Q9P2D1)
L24F (p.Leu24Phe) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L24F (p.Leu24Phe) variant details
- p.Leu24Phe
- rs1406914349
- ClinGen CA371295378
- ClinVar RCV002575202
- ClinVar RCV005542754
- Uncertain significance
- Inborn genetic diseases; CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.29
- MetaLR 0.56
- MetaSVM 0.19
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; CHARGE syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.237
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)