V73G (p.Val73Gly) variant of ATP13A2 (Q9NQ11)
V73G (p.Val73Gly) in ATP13A2 (Q9NQ11) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
V73G (p.Val73Gly) variant details
- p.Val73Gly
- ExAC rs756478512
- TOPMed rs756478512
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.35
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available