F47V (p.Phe47Val) variant of CHD7 (Q9P2D1)
F47V (p.Phe47Val) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
F47V (p.Phe47Val) variant details
- p.Phe47Val
- rs1364452059
- ClinGen CA371295903
- ClinVar RCV001924508
- gnomAD rs1364452059
- Benign
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.30
- MetaLR 0.19
- MetaSVM -0.61
- CADD 24.00
- SIFT 0.00
- ClinVar: Benign (CHARGE syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)