M14V (p.Met14Val) variant of AQP3 (Aquaporin-3)
M14V (p.Met14Val) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
M14V (p.Met14Val) variant details
- p.Met14Val
- gnomAD rs900221905
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.23
- AlphaMissense 0.11
- MetaLR 0.37
- MetaSVM -0.52
- CADD 19.10
- PolyPhen-2 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available