E105D (p.Glu105Asp) variant of PRKAA1 (Q13131)
E105D (p.Glu105Asp) in PRKAA1 (Q13131) 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 0.46 / 1. The record also includes population frequency data and structural context.
E105D (p.Glu105Asp) variant details
- p.Glu105Asp
- NCI-TCGA TCGA novel
- ExAC rs776543926
- TOPMed rs776543926
- gnomAD rs776543926
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.41
- MetaLR 0.13
- MetaSVM -0.95
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available