V8L (p.Val8Leu) variant of AQP5 (Aquaporin-5)
V8L (p.Val8Leu) in AQP5 (Aquaporin-5) 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 0.20 / 1. The record also includes population frequency data and structural context.
V8L (p.Val8Leu) variant details
- p.Val8Leu
- NCI-TCGA Cosmic COSV5222
- NCI-TCGA Cosmic COSV5223
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.24
- CADD 0.25
- PolyPhen-2 0.00
- SIFT 0.88
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available