T62A (p.Thr62Ala) variant of ATP1A2 (P50993)
T62A (p.Thr62Ala) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
T62A (p.Thr62Ala) variant details
- p.Thr62Ala
- gnomAD 1-160123219-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.55
- CADD 23.60
- PolyPhen-2 0.04
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available