M37I (p.Met37Ile) variant of AQP3 (Aquaporin-3)
M37I (p.Met37Ile) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
M37I (p.Met37Ile) variant details
- p.Met37Ile
- gnomAD rs1432636423
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.31
- CADD 22.40
- PolyPhen-2 0.17
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available