Q115L (p.Gln115Leu) variant of ATP6V0A4 (Q9HBG4)
Q115L (p.Gln115Leu) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
Q115L (p.Gln115Leu) variant details
- p.Gln115Leu
- ESP rs373099295
- ExAC rs373099295
- TOPMed rs373099295
- gnomAD rs373099295
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.57
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.62
- MetaSVM 0.24
- CADD 24.20
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available