Q436H (p.Gln436His) variant of FANCA (Fanconi anemia group A protein)
Q436H (p.Gln436His) 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 not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
Q436H (p.Gln436His) variant details
- p.Gln436His
- rs1316078638
- ClinGen CA397463942
- ClinVar RCV001378190
- TOPMed rs1316078638
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.75
- CADD 22.20
- PolyPhen-2 0.12
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-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)