Q54R (p.Gln54Arg) variant of ATP1A2 (P50993)
Q54R (p.Gln54Arg) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
Q54R (p.Gln54Arg) variant details
- p.Gln54Arg
- ExAC rs769793351
- gnomAD rs769793351
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.19
- CADD 21.30
- PolyPhen-2 0.06
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available