S3R (p.Ser3Arg) variant of AQP1 (Aquaporin-1)
S3R (p.Ser3Arg) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S3R (p.Ser3Arg) variant details
- p.Ser3Arg
- 1000Genomes rs574768358
- ExAC rs574768358
- TOPMed rs574768358
- gnomAD rs574768358
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.17
- MetaLR 0.32
- MetaSVM -0.80
- CADD 9.60
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available