H84Q (p.His84Gln) variant of PRKAA1 (Q13131)
H84Q (p.His84Gln) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
H84Q (p.His84Gln) variant details
- p.His84Gln
- ESP rs377014464
- TOPMed rs377014464
- gnomAD rs377014464
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.79
- MetaLR 0.69
- MetaSVM 0.34
- CADD 23.90
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available