V38L (p.Val38Leu) variant of FANCC (Fanconi anemia group C protein)
V38L (p.Val38Leu) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided; Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
V38L (p.Val38Leu) variant details
- p.Val38Leu
- rs778951584
- ClinGen CA374340308
- ClinVar RCV000527400
- ClinVar RCV002323915
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.09
- CADD 8.80
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Fanconi a)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)