N21K (p.Asn21Lys) variant of AQP4 (Aquaporin-4)
N21K (p.Asn21Lys) in AQP4 (Aquaporin-4) is a missense change. 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.
N21K (p.Asn21Lys) variant details
- p.Asn21Lys
- TOPMed rs1009044175
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.17
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available