G20D (p.Gly20Asp) variant of ATP1A2 (P50993)
G20D (p.Gly20Asp) in ATP1A2 (P50993) 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 0.46 / 1. The record also includes population frequency data and structural context.
G20D (p.Gly20Asp) variant details
- p.Gly20Asp
- rs1437032305
- ClinGen CA343227273
- ClinVar RCV001760933
- gnomAD rs1437032305
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.39
- CADD 17.00
- PolyPhen-2 0.01
- SIFT 0.67
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available