K29I (p.Lys29Ile) variant of PRKAA2 (P54646)
K29I (p.Lys29Ile) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
K29I (p.Lys29Ile) variant details
- p.Lys29Ile
- gnomAD 1-56645473-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.53
- MetaLR 0.38
- MetaSVM -0.26
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available