Y64F (p.Tyr64Phe) variant of AQP7 (Aquaporin-7)
Y64F (p.Tyr64Phe) 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.
Y64F (p.Tyr64Phe) variant details
- p.Tyr64Phe
- cosmic curated COSV10610
- ExAC rs199711780
- gnomAD rs199711780
- Missense
- Variant Prioritization Score for Impact Estimate 0.0375
- REVEL 0.01
- CADD 0.06
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 0.00052)
- Structural context available