S63R (p.Ser63Arg) variant of AQP2 (Aquaporin-2)
S63R (p.Ser63Arg) in AQP2 (Aquaporin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S63R (p.Ser63Arg) variant details
- p.Ser63Arg
- 1000Genomes rs200279968
- ExAC rs200279968
- TOPMed rs200279968
- gnomAD rs200279968
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.69
- CADD 8.74
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available