R9P (p.Arg9Pro) variant of AQP4 (Aquaporin-4)
R9P (p.Arg9Pro) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R9P (p.Arg9Pro) variant details
- p.Arg9Pro
- ExAC rs779120344
- TOPMed rs779120344
- gnomAD rs779120344
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.36
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available