H37P (p.His37Pro) variant of FANCC (Fanconi anemia group C protein)
H37P (p.His37Pro) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Fanconi anemia; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
H37P (p.His37Pro) variant details
- p.His37Pro
- rs1564794663
- ClinGen CA374340313
- ClinVar RCV000707475
- ClinVar RCV002440556
- Uncertain significance
- not provided; Fanconi anemia; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.56
- CADD 24.80
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Fanconi anemia; Hereditary cancer-predisposing syn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)