A20T (p.Ala20Thr) variant of AQP1 (Aquaporin-1)
A20T (p.Ala20Thr) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
A20T (p.Ala20Thr) variant details
- p.Ala20Thr
- TOPMed rs1791175731
- gnomAD rs1791175731
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.86
- MetaLR 0.88
- MetaSVM 0.95
- CADD 29.00
- PolyPhen-2 0.75
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available