L231R (p.Leu231Arg) variant of FANCD2 (Fanconi anemia group D2 protein)
L231R (p.Leu231Arg) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Fanconi anemia complementation group D2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and published literature.
L231R (p.Leu231Arg) variant details
- p.Leu231Arg
- rs2086819957
- ClinGen CA351725341
- ClinVar RCV001194903
- Ensembl rs2086819957
- Pathogenic
- Fanconi anemia complementation group D2
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Fanconi anemia complementation group D2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Cited in: Fanconi Anemia. (PMID 20301575)