T37I (p.Thr37Ile) variant of KCNJ5 (P48544)
T37I (p.Thr37Ile) in KCNJ5 (P48544) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
T37I (p.Thr37Ile) variant details
- p.Thr37Ile
- rs1944494966
- ClinGen CA383245903
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10061
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.31
- MetaLR 0.51
- MetaSVM -0.60
- CADD 19.30
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available