S54P (p.Ser54Pro) variant of AQP7 (Aquaporin-7)
S54P (p.Ser54Pro) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S54P (p.Ser54Pro) variant details
- p.Ser54Pro
- TOPMed rs1824905101
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.24
- CADD 22.30
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available