M1L (p.Met1Leu) variant of FANCA (Fanconi anemia group A protein)
M1L (p.Met1Leu) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs772751654
- ClinGen CA397484677
- ClinVar RCV000669511
- ClinVar RCV001387726
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- MetaLR 0.40
- MetaSVM -0.39
- PolyPhen-2 0.47
- SIFT 0.00
- MutPred 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)