L79P (p.Leu79Pro) variant of PRKAA1 (Q13131)
L79P (p.Leu79Pro) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
L79P (p.Leu79Pro) variant details
- p.Leu79Pro
- TOPMed rs1290622927
- gnomAD rs1290622927
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.83
- MetaLR 0.32
- MetaSVM -0.19
- CADD 32.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available