F34L (p.Phe34Leu) variant of AQP4 (Aquaporin-4)
F34L (p.Phe34Leu) in AQP4 (Aquaporin-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
F34L (p.Phe34Leu) variant details
- p.Phe34Leu
- rs201354429
- ClinGen CA8922701
- cosmic curated COSV67218
- ClinVar RCV000884644
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.83
- CADD 23.80
- PolyPhen-2 0.34
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available