K31K (p.Lys31Lys) variant of PRKAA2 (P54646)
K31K (p.Lys31Lys) in PRKAA2 (P54646) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
K31K (p.Lys31Lys) variant details
- p.Lys31Lys
- rs1646632088
- gnomAD 1-56645480-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.647
- CADD 20.30
- Population evidence available
- Structural context available
- Literature evidence available