T22N (p.Thr22Asn) variant of AQP1 (Aquaporin-1)
T22N (p.Thr22Asn) in AQP1 (Aquaporin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
T22N (p.Thr22Asn) variant details
- p.Thr22Asn
- rs1393593188
- ClinGen CA367147464
- ClinVar RCV001867158
- gnomAD rs1393593188
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.49
- MetaLR 0.73
- MetaSVM -0.15
- CADD 8.48
- PolyPhen-2 0.07
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available