D114E (p.Asp114Glu) variant of PRKAA1 (Q13131)
D114E (p.Asp114Glu) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
D114E (p.Asp114Glu) variant details
- p.Asp114Glu
- ExAC rs747608675
- gnomAD rs747608675
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.16
- MetaLR 0.06
- MetaSVM -1.08
- CADD 22.20
- PolyPhen-2 0.10
- SIFT 0.10
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available