V67A (p.Val67Ala) variant of AQP3 (Aquaporin-3)
V67A (p.Val67Ala) in AQP3 (Aquaporin-3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes structural context.
V67A (p.Val67Ala) variant details
- p.Val67Ala
- rs752146716
- ExAC rs752146716
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- AlphaMissense 0.58
- MetaLR 0.55
- MetaSVM 0.05
- PolyPhen-2 0.01
- SIFT 0.19
- MutPred 0.67
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available