Y37H (p.Tyr37His) variant of AQP1 (Aquaporin-1)
Y37H (p.Tyr37His) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
Y37H (p.Tyr37His) variant details
- p.Tyr37His
- ESP rs145372510
- ExAC rs145372510
- gnomAD rs145372510
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.54
- MetaLR 0.61
- MetaSVM 0.03
- CADD 24.60
- PolyPhen-2 0.56
- SIFT 0.34
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available