K34* (p.Lys34Ter) variant of FANCA (Fanconi anemia group A protein)
K34* (p.Lys34Ter) in FANCA (Fanconi anemia group A protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
K34* (p.Lys34Ter) variant details
- p.Lys34Ter
- rs772858764
- ClinGen CA8253174
- ClinVar RCV000668648
- ClinVar RCV001211107
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.858
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-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)