N8I (p.Asn8Ile) variant of FANCA (Fanconi anemia group A protein)
N8I (p.Asn8Ile) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in FANCA. 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.
N8I (p.Asn8Ile) variant details
- p.Asn8Ile
- rs757468756
- ClinGen CA397484587
- ClinVar RCV001202667
- ClinVar RCV006347499
- Likely benign
- in FANCA
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.15
- CADD 1.25
- PolyPhen-2 0.01
- SIFT 0.04
- EBI: Likely benign (in FANCA)
- UniProt: Likely benign (in FANCA)
- Most common in the Middle Eastern population (allele frequency 0.00023)
- 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)