M16I (p.Met16Ile) variant of AQP7 (Aquaporin-7)
M16I (p.Met16Ile) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
M16I (p.Met16Ile) variant details
- p.Met16Ile
- gnomAD rs1421013136
- cosmic curated COSV53003
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.19
- CADD 15.00
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available