W10C (p.Trp10Cys) variant of AQP4 (Aquaporin-4)
W10C (p.Trp10Cys) in AQP4 (Aquaporin-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
W10C (p.Trp10Cys) variant details
- p.Trp10Cys
- rs774486714
- ExAC rs774486714
- TOPMed rs774486714
- gnomAD rs774486714
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.40
- CADD 23.10
- PolyPhen-2 0.09
- SIFT 0.17
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-05)
- Structural context available