Q64K (p.Gln64Lys) variant of ATP1A2 (P50993)
Q64K (p.Gln64Lys) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
Q64K (p.Gln64Lys) variant details
- p.Gln64Lys
- gnomAD 1-160123225-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.27
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available