M46I (p.Met46Ile) variant of AQP2 (Aquaporin-2)
M46I (p.Met46Ile) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
M46I (p.Met46Ile) variant details
- p.Met46Ile
- ExAC rs767301067
- gnomAD rs767301067
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.26
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available