R12S (p.Arg12Ser) variant of AQP1 (Aquaporin-1)
R12S (p.Arg12Ser) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
R12S (p.Arg12Ser) variant details
- p.Arg12Ser
- gnomAD rs1219898649
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.91
- MetaLR 0.78
- MetaSVM 0.72
- CADD 29.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available