T15I (p.Thr15Ile) variant of KCNJ11 (Q14654)
T15I (p.Thr15Ile) in KCNJ11 (Q14654) 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 0.58 / 1. The record also includes population frequency data and structural context.
T15I (p.Thr15Ile) variant details
- p.Thr15Ile
- rs1200722713
- gnomAD rs1200722713
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.44
- CADD 25.60
- PolyPhen-2 0.47
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available