L457P (p.Leu457Pro) variant of FANCD2 (Fanconi anemia group D2 protein)
L457P (p.Leu457Pro) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fanconi anemia complementation group D2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and published literature.
L457P (p.Leu457Pro) variant details
- p.Leu457Pro
- rs1181436417
- ClinGen CA351736439
- ClinVar RCV001194916
- gnomAD rs1181436417
- Likely pathogenic
- Fanconi anemia complementation group D2
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- CADD 27.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Fanconi anemia complementation group D2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Cited in: Fanconi Anemia. (PMID 20301575)