L8P (p.Leu8Pro) variant of FANCC (Fanconi anemia group C protein)
L8P (p.Leu8Pro) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L8P (p.Leu8Pro) variant details
- p.Leu8Pro
- rs752249253
- ClinGen CA5137849
- ClinVar RCV001038389
- ClinVar RCV002427489
- Uncertain significance
- not provided; Fanconi anemia; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- AlphaMissense 0.14
- MetaLR 0.10
- MetaSVM -1.02
- PolyPhen-2 0.32
- SIFT 0.11
- EVE 0.23
- ClinVar: Uncertain significance (not provided; Fanconi anemia; Hereditary cancer-predisposing syn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)