A23V (p.Ala23Val) variant of FANCA (Fanconi anemia group A protein)
A23V (p.Ala23Val) 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 Inborn genetic diseases; not provided; Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- rs776297241
- ClinGen CA8253261
- ClinVar RCV001327579
- ClinVar RCV002504516
- Conflicting interpretations
- Inborn genetic diseases; not provided; Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.03
- CADD 16.50
- PolyPhen-2 0.19
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Fanconi anemia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 3e-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)