N97K (p.Asn97Lys) variant of AQP4 (Aquaporin-4)
N97K (p.Asn97Lys) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
N97K (p.Asn97Lys) variant details
- p.Asn97Lys
- gnomAD 18-26862338-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.89
- MetaLR 0.98
- MetaSVM 1.07
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available