I276M (p.Ile276Met) variant of ATP1A3 (P13637)
I276M (p.Ile276Met) in ATP1A3 (P13637) 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 0.10 / 1. The record also includes population frequency data and structural context.
I276M (p.Ile276Met) variant details
- p.Ile276Met
- ESP rs372952520
- ExAC rs372952520
- TOPMed rs372952520
- gnomAD rs372952520
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.099
- CADD 6.02
- PolyPhen-2 0.01
- SIFT 0.15
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available