P7A (p.Pro7Ala) variant of FANCA (Fanconi anemia group A protein)
P7A (p.Pro7Ala) 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 Inborn genetic diseases; Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
P7A (p.Pro7Ala) variant details
- p.Pro7Ala
- rs780667753
- ClinGen CA286612836
- ClinVar RCV001362227
- ClinVar RCV004980368
- Uncertain significance
- Inborn genetic diseases; Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.0719
- REVEL 0.07
- CADD 2.85
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (Inborn genetic diseases; Fanconi anemia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)