E14D (p.Glu14Asp) variant of PRKAA1 (Q13131)
E14D (p.Glu14Asp) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
E14D (p.Glu14Asp) variant details
- p.Glu14Asp
- cosmic curated COSV99713
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.12
- MetaLR 0.11
- MetaSVM -0.96
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.60
- Population evidence available
- Structural context available