H54Y (p.His54Tyr) variant of FANCA (Fanconi anemia group A protein)
H54Y (p.His54Tyr) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
H54Y (p.His54Tyr) variant details
- p.His54Tyr
- rs1383572316
- ClinGen CA397483308
- ClinVar RCV001240545
- gnomAD rs1383572316
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.07
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)