M16L (p.Met16Leu) variant of FANCC (Fanconi anemia group C protein)
M16L (p.Met16Leu) 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 not provided; Fanconi anemia; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
M16L (p.Met16Leu) variant details
- p.Met16Leu
- rs1390412870
- ClinGen CA374340454
- ClinVar RCV000630906
- ClinVar RCV003162794
- Conflicting interpretations
- not provided; Fanconi anemia; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.04
- CADD 13.10
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Fanconi anemia; Hereditary cancer-predisposing syn)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.1e-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)