L50V (p.Leu50Val) variant of AQP4 (Aquaporin-4)
L50V (p.Leu50Val) in AQP4 (Aquaporin-4) 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 0.58 / 1. The record also includes population frequency data and structural context.
L50V (p.Leu50Val) variant details
- p.Leu50Val
- NCI-TCGA Cosmic COSV6721
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.61
- CADD 22.90
- PolyPhen-2 0.07
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available