V55E (p.Val55Glu) variant of ATP1A2 (P50993)
V55E (p.Val55Glu) 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.
V55E (p.Val55Glu) variant details
- p.Val55Glu
- gnomAD 1-160121238-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.56
- CADD 23.30
- PolyPhen-2 0.20
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available