V6F (p.Val6Phe) variant of FANCA (Fanconi anemia group A protein)
V6F (p.Val6Phe) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Fanconi anemia; Fanconi anemia complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V6F (p.Val6Phe) variant details
- p.Val6Phe
- rs1348835311
- ClinGen CA397484610
- ClinVar RCV003524853
- ClinVar RCV005014807
- Conflicting interpretations
- Fanconi anemia; Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.22
- CADD 10.50
- PolyPhen-2 0.09
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (Fanconi anemia; Fanconi anemia complementation group A)
- EBI: Likely benign (in dbSNP:rs1800282)
- UniProt: Likely benign (in dbSNP:rs1800282)
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)