I27V (p.Ile27Val) variant of AQP1 (Aquaporin-1)
I27V (p.Ile27Val) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
I27V (p.Ile27Val) variant details
- p.Ile27Val
- TOPMed rs1791176510
- gnomAD rs1791176510
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.24
- MetaLR 0.37
- MetaSVM -0.49
- CADD 21.60
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available