T15A (p.Thr15Ala) variant of ATP1A2 (P50993)
T15A (p.Thr15Ala) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
T15A (p.Thr15Ala) variant details
- p.Thr15Ala
- gnomAD 1-160120936-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.24
- CADD 18.80
- PolyPhen-2 0.03
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available