K118Q (p.Lys118Gln) variant of ATP6V0A4 (Q9HBG4)
K118Q (p.Lys118Gln) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
K118Q (p.Lys118Gln) variant details
- p.Lys118Gln
- ESP rs140207554
- ExAC rs140207554
- TOPMed rs140207554
- gnomAD rs140207554
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.54
- MetaSVM -0.11
- CADD 23.70
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available