Q132R (p.Gln132Arg) variant of PRKAA1 (Q13131)
Q132R (p.Gln132Arg) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
Q132R (p.Gln132Arg) variant details
- p.Gln132Arg
- ExAC rs768829085
- gnomAD rs768829085
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.55
- MetaLR 0.04
- MetaSVM -0.78
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available