P37S (p.Pro37Ser) variant of FANCA (Fanconi anemia group A protein)
P37S (p.Pro37Ser) 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; Fanconi anemia complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P37S (p.Pro37Ser) variant details
- p.Pro37Ser
- rs780833865
- ClinGen CA8253171
- ClinVar RCV001905007
- ClinVar RCV002482523
- Uncertain significance
- Inborn genetic diseases; Fanconi anemia; Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0908
- REVEL 0.03
- CADD 4.45
- PolyPhen-2 0.01
- SIFT 0.94
- ClinVar: Uncertain significance (Inborn genetic diseases; Fanconi anemia; Fanconi anemia compleme)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-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)