T6I (p.Thr6Ile) variant of KCNJ2 (P63252)
T6I (p.Thr6Ile) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
T6I (p.Thr6Ile) variant details
- p.Thr6Ile
- rs754091630
- ClinGen CA8738679
- ClinVar RCV002269600
- ExAC rs754091630
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.11
- MetaLR 0.05
- MetaSVM -1.06
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available