K6E (p.Lys6Glu) variant of PRKAA2 (P54646)
K6E (p.Lys6Glu) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
K6E (p.Lys6Glu) variant details
- p.Lys6Glu
- gnomAD 1-56645403-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.37
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available