N49S (p.Asn49Ser) variant of AQP1 (Aquaporin-1)
N49S (p.Asn49Ser) in AQP1 (Aquaporin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
N49S (p.Asn49Ser) variant details
- p.Asn49Ser
- ExAC rs770124156
- TOPMed rs770124156
- gnomAD rs770124156
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.35
- MetaLR 0.38
- MetaSVM -0.39
- CADD 20.70
- PolyPhen-2 0.02
- SIFT 0.57
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0014)
- Structural context available