P7T (p.Pro7Thr) variant of FANCA (Fanconi anemia group A protein)
P7T (p.Pro7Thr) 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 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
P7T (p.Pro7Thr) variant details
- p.Pro7Thr
- rs780667753
- ClinGen CA397484602
- ClinVar RCV003087659
- ClinVar RCV005335647
- Uncertain significance
- Inborn genetic diseases; Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.106
- REVEL 0.12
- CADD 4.51
- PolyPhen-2 0.02
- SIFT 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases; Fanconi anemia)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)