K36R (p.Lys36Arg) variant of ATP1A1 (P05023)
K36R (p.Lys36Arg) 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.
K36R (p.Lys36Arg) variant details
- p.Lys36Arg
- gnomAD 1-116384108-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.47
- CADD 23.70
- PolyPhen-2 0.07
- SIFT 0.13
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available
- Literature evidence available