H26Q (p.His26Gln) variant of PRKAA1 (Q13131)
H26Q (p.His26Gln) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
H26Q (p.His26Gln) variant details
- p.His26Gln
- ExAC rs766616413
- TOPMed rs766616413
- gnomAD rs766616413
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.25
- MetaLR 0.03
- MetaSVM -1.04
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available