K50* (p.Lys50Ter) variant of ATP6V0A4 (Q9HBG4)
K50* (p.Lys50Ter) in ATP6V0A4 (Q9HBG4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
K50* (p.Lys50Ter) variant details
- p.Lys50Ter
- ExAC rs768967518
- gnomAD rs768967518
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.741
- CADD 40.00
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available