L70Q (p.Leu70Gln) variant of FANCC (Fanconi anemia group C protein)
L70Q (p.Leu70Gln) 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; Fanconi anemia complementation group C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
L70Q (p.Leu70Gln) variant details
- p.Leu70Gln
- rs150174412
- ClinGen CA5137804
- ClinVar RCV001070979
- ClinVar RCV001759849
- Uncertain significance
- not provided; Fanconi anemia; Fanconi anemia complementation group C
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.55
- AlphaMissense 0.69
- MetaLR 0.35
- MetaSVM -0.07
- CADD 26.30
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided; Fanconi anemia; Fanconi anemia complementation gro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)