M42V (p.Met42Val) variant of AQP7 (Aquaporin-7)
M42V (p.Met42Val) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
M42V (p.Met42Val) variant details
- p.Met42Val
- gnomAD rs1278071704
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.31
- CADD 8.25
- PolyPhen-2 0.02
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available