T14A (p.Thr14Ala) variant of ATP1A2 (P50993)
T14A (p.Thr14Ala) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T14A (p.Thr14Ala) variant details
- p.Thr14Ala
- gnomAD 1-160120933-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.19
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.88
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available