F17L (p.Phe17Leu) variant of AQP2 (Aquaporin-2)
F17L (p.Phe17Leu) in AQP2 (Aquaporin-2) 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 0.66 / 1. The record also includes population frequency data and structural context.
F17L (p.Phe17Leu) variant details
- p.Phe17Leu
- ExAC rs763919973
- gnomAD rs763919973
- NCI-TCGA Cosmic COSV5222
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.71
- CADD 23.10
- PolyPhen-2 0.19
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available