G10D (p.Gly10Asp) variant of ATP13A2 (Q9NQ11)
G10D (p.Gly10Asp) in ATP13A2 (Q9NQ11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G10D (p.Gly10Asp) variant details
- p.Gly10Asp
- rs1553172821
- ClinGen CA338265724
- ClinVar RCV000585147
- Ensembl rs1553172821
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.30
- CADD 22.70
- PolyPhen-2 0.08
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available