N49N (p.Asn49Asn) variant of AQP1 (Aquaporin-1)
N49N (p.Asn49Asn) in AQP1 (Aquaporin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
N49N (p.Asn49Asn) variant details
- p.Asn49Asn
- rs779776693
- gnomAD 7-30912056-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.136
- CADD 7.76
- Most common in the East Asian population (allele frequency 0.00058)
- Structural context available
- Literature evidence available