D69N (p.Asp69Asn) variant of AQP4 (Aquaporin-4)
D69N (p.Asp69Asn) 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 0.56 / 1. The record also includes population frequency data and structural context.
D69N (p.Asp69Asn) variant details
- p.Asp69Asn
- NCI-TCGA Cosmic COSV6721
- cosmic curated COSV67219
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.44
- CADD 20.20
- PolyPhen-2 0.05
- SIFT 0.38
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available