T143T (p.Thr143Thr) variant of AQP3 (Aquaporin-3)
T143T (p.Thr143Thr) in AQP3 (Aquaporin-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
T143T (p.Thr143Thr) variant details
- p.Thr143Thr
- gnomAD 9-33442915-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.262
- AlphaMissense 0.82
- MetaLR 0.14
- MetaSVM -0.83
- CADD 10.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available