M1T (p.Met1Thr) variant of FANCA (Fanconi anemia group A protein)
M1T (p.Met1Thr) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs769479800
- ClinGen CA8253279
- ClinVar RCV000669920
- ClinVar RCV000699054
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- MetaLR 0.63
- MetaSVM 0.31
- PolyPhen-2 0.90
- 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)