M47I (p.Met47Ile) variant of AQP7 (Aquaporin-7)
M47I (p.Met47Ile) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
M47I (p.Met47Ile) variant details
- p.Met47Ile
- cosmic curated COSV99952
- Ensembl rs1564187118
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.15
- CADD 23.60
- PolyPhen-2 0.04
- SIFT 0.02
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available