V52I (p.Val52Ile) variant of ATP13A2 (Q9NQ11)
V52I (p.Val52Ile) in ATP13A2 (Q9NQ11) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
V52I (p.Val52Ile) variant details
- p.Val52Ile
- cosmic curated COSV58702
- ExAC rs766408337
- TOPMed rs766408337
- gnomAD rs766408337
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0783
- REVEL 0.07
- CADD 3.77
- PolyPhen-2 0.01
- SIFT 0.54
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available