L82V (p.Leu82Val) variant of ATP13A2 (Q9NQ11)
L82V (p.Leu82Val) 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 0.33 / 1. The record also includes population frequency data and structural context.
L82V (p.Leu82Val) variant details
- p.Leu82Val
- ExAC rs761558105
- TOPMed rs761558105
- gnomAD rs761558105
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.19
- CADD 22.90
- PolyPhen-2 0.92
- SIFT 0.19
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available