N49H (p.Asn49His) variant of AQP1 (Aquaporin-1)
N49H (p.Asn49His) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
N49H (p.Asn49His) variant details
- p.Asn49His
- gnomAD 7-30912054-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.52
- MetaLR 0.52
- MetaSVM 0.14
- CADD 23.70
- PolyPhen-2 0.59
- SIFT 0.24
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available