E11K (p.Glu11Lys) variant of ATP1A1 (P05023)
E11K (p.Glu11Lys) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E11K (p.Glu11Lys) variant details
- p.Glu11Lys
- gnomAD 1-116384032-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.46
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.72
- Most common in the HGDP:TUJIA population (allele frequency 0.05)
- Structural context available
- Literature evidence available