D8E (p.Asp8Glu) variant of PRKAA2 (P54646)
D8E (p.Asp8Glu) in PRKAA2 (P54646) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
D8E (p.Asp8Glu) variant details
- p.Asp8Glu
- 1000Genomes rs200643979
- ExAC rs200643979
- gnomAD rs200643979
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.08
- MetaLR 0.13
- MetaSVM -1.06
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available