M1I (p.Met1Ile) variant of FANCA (Fanconi anemia group A protein)
M1I (p.Met1Ile) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1555581729
- ClinGen CA397484665
- ClinVar RCV000671694
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- MetaLR 0.36
- MetaSVM -0.31
- PolyPhen-2 0.05
- SIFT 0.00
- MutPred 1.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)