D48Y (p.Asp48Tyr) variant of AQP1 (Aquaporin-1)
D48Y (p.Asp48Tyr) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
D48Y (p.Asp48Tyr) variant details
- p.Asp48Tyr
- gnomAD 7-30912051-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.92
- MetaLR 0.87
- MetaSVM 0.91
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available