S28Y (p.Ser28Tyr) variant of AQP1 (Aquaporin-1)
S28Y (p.Ser28Tyr) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S28Y (p.Ser28Tyr) variant details
- p.Ser28Tyr
- rs1334004771
- gnomAD 7-30921669-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- CADD 2.48
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Literature evidence available