A23G (p.Ala23Gly) variant of FANCA (Fanconi anemia group A protein)
A23G (p.Ala23Gly) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A23G (p.Ala23Gly) variant details
- p.Ala23Gly
- rs776297241
- ClinGen CA397484412
- ClinVar RCV001062373
- ClinVar RCV002555811
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.05
- CADD 20.50
- PolyPhen-2 0.14
- SIFT 0.03
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-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)