T6S (p.Thr6Ser) variant of KCNJ2 (P63252)
T6S (p.Thr6Ser) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
T6S (p.Thr6Ser) variant details
- p.Thr6Ser
- rs1598210971
- ClinGen CA400859492
- ClinVar RCV004520982
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.07
- CADD 17.40
- PolyPhen-2 0.02
- SIFT 0.61
- ClinVar: Likely benign (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available