A16T (p.Ala16Thr) variant of AQP5 (Aquaporin-5)
A16T (p.Ala16Thr) in AQP5 (Aquaporin-5) 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 0.39 / 1. The record also includes population frequency data and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- rs532533853
- NCI-TCGA Cosmic COSV5223
- ExAC rs532533853
- TOPMed rs532533853
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.40
- CADD 22.50
- PolyPhen-2 0.93
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available