A131T (p.Ala131Thr) variant of AQP3 (Aquaporin-3)
A131T (p.Ala131Thr) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A131T (p.Ala131Thr) variant details
- p.Ala131Thr
- TOPMed rs774972543
- gnomAD rs774972543
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.14
- CADD 13.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available