K36N (p.Lys36Asn) variant of AQP4 (Aquaporin-4)
K36N (p.Lys36Asn) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
K36N (p.Lys36Asn) variant details
- p.Lys36Asn
- ESP rs371760940
- TOPMed rs371760940
- gnomAD rs371760940
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.57
- CADD 23.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available