H84Q (p.His84Gln) variant of ATP13A2 (Q9NQ11)
H84Q (p.His84Gln) in ATP13A2 (Q9NQ11) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
H84Q (p.His84Gln) variant details
- p.His84Gln
- ExAC rs554944790
- TOPMed rs554944790
- gnomAD rs554944790
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.05
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.87
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available