Y37C (p.Tyr37Cys) variant of AQP1 (Aquaporin-1)
Y37C (p.Tyr37Cys) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
Y37C (p.Tyr37Cys) variant details
- p.Tyr37Cys
- TOPMed rs1218986771
- gnomAD rs1218986771
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.64
- MetaLR 0.76
- MetaSVM 0.43
- CADD 26.00
- PolyPhen-2 0.63
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available