N8K (p.Asn8Lys) variant of FANCA (Fanconi anemia group A protein)
N8K (p.Asn8Lys) 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 Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
N8K (p.Asn8Lys) variant details
- p.Asn8Lys
- rs76275444
- ClinGen CA159223
- ClinVar RCV000120909
- ClinVar RCV000371007
- Uncertain significance
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.0574
- REVEL 0.06
- CADD 0.54
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (Fanconi anemia)
- EBI: Benign (in FANCA)
- UniProt: Benign (in FANCA)
- Population evidence available
- Structural context available
- Cited in: Sequence variation in the Fanconi anemia gene FAA. (PMID 9371798)
- Cited in: Fanconi Anemia. (PMID 20301575)