S1337G (p.Ser1337Gly) variant of FANCA (Fanconi anemia group A protein)
S1337G (p.Ser1337Gly) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Fanconi anemia complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
S1337G (p.Ser1337Gly) variant details
- p.Ser1337Gly
- rs1268944859
- ClinGen CA397484737
- ClinVar RCV001256299
- TOPMed rs1268944859
- Pathogenic
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- AlphaMissense 0.10
- MetaLR 0.72
- MetaSVM 0.52
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.43
- ClinVar: Pathogenic (Fanconi anemia complementation group A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)