K64N (p.Lys64Asn) variant of AQP4 (Aquaporin-4)
K64N (p.Lys64Asn) 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 0.24 / 1. The record also includes population frequency data and structural context.
K64N (p.Lys64Asn) variant details
- p.Lys64Asn
- NCI-TCGA Cosmic COSV6721
- cosmic curated COSV67218
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.22
- CADD 5.59
- PolyPhen-2 0.00
- SIFT 0.37
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available