R29M (p.Arg29Met) variant of FANCA (Fanconi anemia group A protein)
R29M (p.Arg29Met) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
R29M (p.Arg29Met) variant details
- p.Arg29Met
- rs764561391
- ClinGen CA8253182
- ClinVar RCV000822301
- ClinVar RCV001274664
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- AlphaMissense 0.40
- MetaLR 0.75
- MetaSVM 0.61
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.84
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)