E118K (p.Glu118Lys) variant of ATP13A2 (Q9NQ11)
E118K (p.Glu118Lys) in ATP13A2 (Q9NQ11) 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 0.22 / 1. The record also includes population frequency data and structural context.
E118K (p.Glu118Lys) variant details
- p.Glu118Lys
- rs756152157
- ClinGen CA637661
- ClinVar RCV003143607
- ExAC rs756152157
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.06
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available