G44V (p.Gly44Val) variant of PRKAA1 (Q13131)
G44V (p.Gly44Val) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G44V (p.Gly44Val) variant details
- p.Gly44Val
- ESP rs377206671
- ExAC rs377206671
- TOPMed rs377206671
- gnomAD rs377206671
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.63
- MetaLR 0.12
- MetaSVM -0.99
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available