R73H (p.Arg73His) variant of PRKAA1 (Q13131)
R73H (p.Arg73His) in PRKAA1 (Q13131) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R73H (p.Arg73His) variant details
- p.Arg73His
- rs764113006
- ExAC rs764113006
- gnomAD rs764113006
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.42
- MetaLR 0.36
- MetaSVM -0.36
- CADD 27.10
- PolyPhen-2 0.92
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available