V24I (p.Val24Ile) variant of PRKAA2 (P54646)
V24I (p.Val24Ile) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V24I (p.Val24Ile) variant details
- p.Val24Ile
- TOPMed rs1295726050
- gnomAD rs1295726050
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.25
- MetaLR 0.20
- MetaSVM -0.83
- CADD 23.10
- PolyPhen-2 0.57
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available