P7R (p.Pro7Arg) variant of FANCA (Fanconi anemia group A protein)
P7R (p.Pro7Arg) 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 not provided; Inborn genetic diseases; Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
P7R (p.Pro7Arg) variant details
- p.Pro7Arg
- rs772712346
- ClinGen CA397484599
- ClinVar RCV001879044
- ClinVar RCV002551650
- Uncertain significance
- not provided; Inborn genetic diseases; Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.0827
- REVEL 0.08
- CADD 2.47
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Fanconi anemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)