A45T (p.Ala45Thr) variant of AQP2 (Aquaporin-2)
A45T (p.Ala45Thr) in AQP2 (Aquaporin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
A45T (p.Ala45Thr) variant details
- p.Ala45Thr
- NCI-TCGA Cosmic COSV5223
- Ensembl rs1947324308
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.76
- CADD 23.30
- PolyPhen-2 0.78
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available