T7I (p.Thr7Ile) variant of POT1 (Q9NUX5)
T7I (p.Thr7Ile) in POT1 (Q9NUX5) 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 0.20 / 1. The record also includes population frequency data and structural context.
T7I (p.Thr7Ile) variant details
- p.Thr7Ile
- NCI-TCGA Cosmic COSV1007
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.04
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available