K21I (p.Lys21Ile) variant of ATP1A1 (P05023)
K21I (p.Lys21Ile) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
K21I (p.Lys21Ile) variant details
- p.Lys21Ile
- gnomAD 1-116384063-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.58
- CADD 26.60
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 0.0066)
- Structural context available
- Literature evidence available