D139G (p.Asp139Gly) variant of PRKAA1 (Q13131)
D139G (p.Asp139Gly) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
D139G (p.Asp139Gly) variant details
- p.Asp139Gly
- TOPMed rs966217070
- gnomAD rs966217070
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.77
- MetaLR 0.37
- MetaSVM -0.31
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available