N49D (p.Asn49Asp) variant of AQP1 (Aquaporin-1)
N49D (p.Asn49Asp) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
N49D (p.Asn49Asp) variant details
- p.Asn49Asp
- gnomAD 7-30912054-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.47
- MetaLR 0.49
- MetaSVM 0.04
- CADD 24.40
- PolyPhen-2 0.12
- SIFT 0.50
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Literature evidence available