H7Q (p.His7Gln) variant of PRKAA2 (P54646)
H7Q (p.His7Gln) in PRKAA2 (P54646) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
H7Q (p.His7Gln) variant details
- p.His7Gln
- TOPMed rs1196595450
- gnomAD rs1196595450
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.28
- MetaLR 0.16
- MetaSVM -0.99
- CADD 18.90
- PolyPhen-2 0.09
- SIFT 0.28
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available