Y123C (p.Tyr123Cys) variant of AQP3 (Aquaporin-3)
Y123C (p.Tyr123Cys) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
Y123C (p.Tyr123Cys) variant details
- p.Tyr123Cys
- Ensembl rs1826868168
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.66
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available