K24I (p.Lys24Ile) variant of ATP1A1 (P05023)
K24I (p.Lys24Ile) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
K24I (p.Lys24Ile) variant details
- p.Lys24Ile
- gnomAD 1-116384072-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.43
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available