V17M (p.Val17Met) variant of PRKAA2 (P54646)
V17M (p.Val17Met) in PRKAA2 (P54646) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
V17M (p.Val17Met) variant details
- p.Val17Met
- cosmic curated COSV64804
- TOPMed rs1304339883
- gnomAD rs1304339883
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.12
- MetaLR 0.18
- MetaSVM -0.90
- CADD 22.70
- PolyPhen-2 0.38
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available