T11I (p.Thr11Ile) variant of KMT2E (Histone reader KMT2E)
T11I (p.Thr11Ile) in KMT2E (Histone reader KMT2E) 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 0.66 / 1. The record also includes population frequency data and structural context.
T11I (p.Thr11Ile) variant details
- p.Thr11Ile
- rs1435711015
- ClinGen CA368781924
- cosmic curated COSV57581
- ClinVar RCV003671610
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.70
- CADD 24.40
- PolyPhen-2 0.48
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available