S31Y (p.Ser31Tyr) variant of AQP1 (Aquaporin-1)
S31Y (p.Ser31Tyr) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
S31Y (p.Ser31Tyr) variant details
- p.Ser31Tyr
- ExAC rs766962806
- gnomAD rs766962806
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.70
- MetaLR 0.84
- MetaSVM 0.94
- CADD 25.30
- PolyPhen-2 0.66
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available