Q73K (p.Gln73Lys) variant of ATP6V0A4 (Q9HBG4)
Q73K (p.Gln73Lys) in ATP6V0A4 (Q9HBG4) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
Q73K (p.Gln73Lys) variant details
- p.Gln73Lys
- TOPMed rs1370746302
- gnomAD rs1370746302
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.26
- MetaSVM -0.84
- CADD 9.72
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available