R19Q (p.Arg19Gln) variant of FANCA (Fanconi anemia group A protein)
R19Q (p.Arg19Gln) in FANCA (Fanconi anemia group A protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R19Q (p.Arg19Gln) variant details
- p.Arg19Gln
- gnomAD rs1446775327
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.28
- CADD 19.60
- PolyPhen-2 0.31
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available