Q5H (p.Gln5His) variant of PRKAA2 (P54646)
Q5H (p.Gln5His) 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 0.36 / 1. The record also includes population frequency data and structural context.
Q5H (p.Gln5His) variant details
- p.Gln5His
- rs1646631359
- ClinGen CA340495261
- ClinVar RCV004515070
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.23
- MetaLR 0.19
- MetaSVM -0.68
- CADD 25.40
- PolyPhen-2 0.35
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available