N21D (p.Asn21Asp) variant of AQP4 (Aquaporin-4)
N21D (p.Asn21Asp) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
N21D (p.Asn21Asp) variant details
- p.Asn21Asp
- Ensembl rs1014713773
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.19
- CADD 6.81
- PolyPhen-2 0.00
- SIFT 0.46
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available