T143A (p.Thr143Ala) variant of AQP3 (Aquaporin-3)
T143A (p.Thr143Ala) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
T143A (p.Thr143Ala) variant details
- p.Thr143Ala
- gnomAD 9-33442917-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.38
- MetaLR 0.10
- MetaSVM -1.07
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available