V24L (p.Val24Leu) variant of PRKAA2 (P54646)
V24L (p.Val24Leu) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V24L (p.Val24Leu) variant details
- p.Val24Leu
- TOPMed rs1295726050
- gnomAD rs1295726050
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.26
- MetaLR 0.27
- MetaSVM -0.52
- CADD 24.90
- PolyPhen-2 0.62
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available