S138A (p.Ser138Ala) variant of AQP3 (Aquaporin-3)
S138A (p.Ser138Ala) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S138A (p.Ser138Ala) variant details
- p.Ser138Ala
- gnomAD 9-33442932-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.08
- AlphaMissense 0.74
- MetaLR 0.15
- MetaSVM -0.72
- CADD 21.00
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available