L29R (p.Leu29Arg) variant of PRKAA1 (Q13131)
L29R (p.Leu29Arg) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
L29R (p.Leu29Arg) variant details
- p.Leu29Arg
- TOPMed rs1745024055
- gnomAD rs1745024055
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.65
- MetaLR 0.18
- MetaSVM -0.76
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available