A16S (p.Ala16Ser) variant of AQP5 (Aquaporin-5)
A16S (p.Ala16Ser) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A16S (p.Ala16Ser) variant details
- p.Ala16Ser
- ExAC rs532533853
- TOPMed rs532533853
- gnomAD rs532533853
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.48
- CADD 21.80
- PolyPhen-2 0.89
- SIFT 0.06
- Most common in the HGDP:YAKUT population (allele frequency 0.02)
- Structural context available