A52D (p.Ala52Asp) variant of AQP5 (Aquaporin-5)
A52D (p.Ala52Asp) in AQP5 (Aquaporin-5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
A52D (p.Ala52Asp) variant details
- p.Ala52Asp
- TOPMed rs1446033559
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.76
- CADD 23.30
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available