R51G (p.Arg51Gly) variant of ATP1A2 (P50993)
R51G (p.Arg51Gly) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R51G (p.Arg51Gly) variant details
- p.Arg51Gly
- gnomAD 1-160121225-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.51
- CADD 19.50
- PolyPhen-2 0.24
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available