F5V (p.Phe5Val) variant of AQP1 (Aquaporin-1)
F5V (p.Phe5Val) 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 0.37 / 1. The record also includes population frequency data and structural context.
F5V (p.Phe5Val) variant details
- p.Phe5Val
- NCI-TCGA Cosmic COSV1003
- ExAC rs756931426
- TOPMed rs756931426
- gnomAD rs756931426
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.28
- MetaLR 0.34
- MetaSVM -0.62
- CADD 21.90
- SIFT 0.36
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available