T105S (p.Thr105Ser) variant of AQP3 (Aquaporin-3)
T105S (p.Thr105Ser) 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 and structural context.
T105S (p.Thr105Ser) variant details
- p.Thr105Ser
- gnomAD rs1826869202
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.25
- AlphaMissense 0.11
- MetaLR 0.85
- MetaSVM 0.86
- CADD 1.37
- PolyPhen-2 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available