P151A (p.Pro151Ala) variant of AQP3 (Aquaporin-3)
P151A (p.Pro151Ala) in AQP3 (Aquaporin-3) 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 0.56 / 1. The record also includes population frequency data and structural context.
P151A (p.Pro151Ala) variant details
- p.Pro151Ala
- Ensembl rs1826859780
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.52
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available