L496R (p.Leu496Arg) variant of FANCC (Fanconi anemia group C protein)
L496R (p.Leu496Arg) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Fanconi anemia complementation group C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
L496R (p.Leu496Arg) variant details
- p.Leu496Arg
- rs121917785
- ClinGen CA256207
- ClinVar RCV000012830
- UniProt VAR 005232
- Pathogenic
- Fanconi anemia complementation group C
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- AlphaMissense 0.51
- MetaLR 0.36
- MetaSVM -0.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic (Fanconi anemia complementation group C)
- EBI: Pathogenic (in FANCC)
- UniProt: Pathogenic (in FANCC)
- Structural context available
- Cited in: Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse… (PMID 10431244)
- Cited in: Novel mutations and polymorphisms in the Fanconi anemia group C gene. (PMID 8844212)