M93T (p.Met93Thr) variant of AQP7 (Aquaporin-7)
M93T (p.Met93Thr) in AQP7 (Aquaporin-7) 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 0.78 / 1. The record also includes population frequency data and structural context.
M93T (p.Met93Thr) variant details
- p.Met93Thr
- rs1243127641
- NCI-TCGA Cosmic COSV5301
- NCI-TCGA Cosmic COSV9995
- cosmic curated COSV99952
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.90
- CADD 24.40
- PolyPhen-2 0.49
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available