N68T (p.Asn68Thr) variant of AQP2 (Aquaporin-2)
N68T (p.Asn68Thr) in AQP2 (Aquaporin-2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in NDI2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
N68T (p.Asn68Thr) variant details
- p.Asn68Thr
- ExAC rs104894331
- gnomAD rs104894331
- Pathogenic
- in NDI2
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.91
- AlphaMissense 0.96
- MetaLR 0.98
- MetaSVM 1.00
- CADD 24.40
- PolyPhen-2 1.00
- EBI: Pathogenic (in NDI2)
- UniProt: Pathogenic (in NDI2)
- Most common in the Latino/Admixed American population (allele frequency 0.024)
- Structural context available