L33P (p.Leu33Pro) variant of AQP1 (Aquaporin-1)
L33P (p.Leu33Pro) in AQP1 (Aquaporin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
L33P (p.Leu33Pro) variant details
- p.Leu33Pro
- rs760251239
- ExAC rs760251239
- TOPMed rs760251239
- gnomAD rs760251239
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.86
- MetaLR 0.76
- MetaSVM 0.66
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available