R29K (p.Arg29Lys) variant of FANCA (Fanconi anemia group A protein)
R29K (p.Arg29Lys) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R29K (p.Arg29Lys) variant details
- p.Arg29Lys
- ExAC rs764561391
- TOPMed rs764561391
- gnomAD rs764561391
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.34
- AlphaMissense 0.40
- MetaLR 0.75
- MetaSVM 0.61
- CADD 23.90
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available