P7S (p.Pro7Ser) variant of FANCA (Fanconi anemia group A protein)
P7S (p.Pro7Ser) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Fanconi anemia; Fanconi anemia complementation group A. 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.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- rs780667753
- ClinGen CA8253278
- cosmic curated COSV10891
- ClinVar RCV001304743
- Conflicting interpretations
- Fanconi anemia; Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.12
- CADD 4.86
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Conflicting classifications of pathogenicity (Fanconi anemia; Fanconi anemia complementation group A)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00014)
- 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)