E420K (p.Glu420Lys) variant of FANCA (Fanconi anemia group A protein)
E420K (p.Glu420Lys) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fanconi anemia complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
E420K (p.Glu420Lys) variant details
- p.Glu420Lys
- rs760352719
- ClinGen CA8252424
- cosmic curated COSV10122
- ClinVar RCV003460136
- Likely pathogenic
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.60
- CADD 24.20
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Likely pathogenic (Fanconi anemia complementation group A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)