T20I (p.Thr20Ile) variant of KCNE1 (P15382)
T20I (p.Thr20Ile) in KCNE1 (P15382) 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 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T20I (p.Thr20Ile) variant details
- p.Thr20Ile
- rs199473349
- ClinGen CA331968
- ClinVar RCV000119093
- ClinVar RCV004777597
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.58
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 3.16
- PolyPhen-2 0.03
- SIFT 0.34
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.53
- Cited in: Long QT Syndrome Overview. (PMID 20301308)