A2V (p.Ala2Val) variant of PRKAA2 (P54646)
A2V (p.Ala2Val) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- TOPMed rs1428540628
- gnomAD rs1428540628
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.25
- MetaLR 0.24
- MetaSVM -0.68
- CADD 23.10
- PolyPhen-2 0.09
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available