A10T (p.Ala10Thr) variant of FANCA (Fanconi anemia group A protein)
A10T (p.Ala10Thr) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi anemia; Inborn genetic diseases; Fanconi anemia complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A10T (p.Ala10Thr) variant details
- p.Ala10Thr
- rs965036018
- ClinGen CA286612791
- ClinVar RCV000803976
- ClinVar RCV001120660
- Uncertain significance
- Fanconi anemia; Inborn genetic diseases; Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.08
- CADD 11.80
- PolyPhen-2 0.03
- SIFT 0.02
- ClinVar: Uncertain significance (Fanconi anemia; Inborn genetic diseases; Fanconi anemia compleme)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.6e-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)