T143S (p.Thr143Ser) variant of AQP3 (Aquaporin-3)
T143S (p.Thr143Ser) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
T143S (p.Thr143Ser) variant details
- p.Thr143Ser
- gnomAD 9-33442917-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.32
- MetaLR 0.09
- MetaSVM -1.13
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available