A47T (p.Ala47Thr) variant of FANCA (Fanconi anemia group A protein)
A47T (p.Ala47Thr) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A47T (p.Ala47Thr) variant details
- p.Ala47Thr
- rs1190475225
- ClinGen CA397483390
- cosmic curated COSV10971
- ClinVar RCV000799065
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.17
- CADD 24.60
- PolyPhen-2 0.98
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)