K37Q (p.Lys37Gln) variant of ATP1A1 (P05023)
K37Q (p.Lys37Gln) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
K37Q (p.Lys37Gln) variant details
- p.Lys37Gln
- gnomAD 1-116384110-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.38
- CADD 23.20
- PolyPhen-2 0.03
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available