H18Q (p.His18Gln) variant of PRKAA1 (Q13131)
H18Q (p.His18Gln) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
H18Q (p.His18Gln) variant details
- p.His18Gln
- ExAC rs766987004
- TOPMed rs766987004
- gnomAD rs766987004
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.30
- MetaLR 0.24
- MetaSVM -0.79
- CADD 23.40
- PolyPhen-2 0.60
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available