K9N (p.Lys9Asn) variant of ATP1A1 (P05023)
K9N (p.Lys9Asn) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
K9N (p.Lys9Asn) variant details
- p.Lys9Asn
- gnomAD 1-116384028-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.28
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Literature evidence available