P68T (p.Pro68Thr) variant of KCNQ2 (O43526)
P68T (p.Pro68Thr) in KCNQ2 (O43526) 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 0.48 / 1. The record also includes population frequency data and structural context.
P68T (p.Pro68Thr) variant details
- p.Pro68Thr
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.36
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.46
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available