K9Q (p.Lys9Gln) variant of ATP1A1 (P05023)
K9Q (p.Lys9Gln) in ATP1A1 (P05023) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
K9Q (p.Lys9Gln) variant details
- p.Lys9Gln
- rs769191909
- ClinGen CA1025002
- ClinVar RCV003825472
- ExAC rs769191909
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.24
- MetaLR 0.53
- MetaSVM -0.18
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.69
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available