Y64H (p.Tyr64His) variant of AQP7 (Aquaporin-7)
Y64H (p.Tyr64His) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
Y64H (p.Tyr64His) variant details
- p.Tyr64His
- TOPMed rs1276354660
- gnomAD rs1276354660
- Missense
- Variant Prioritization Score for Impact Estimate 0.0358
- REVEL 0.02
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available