T11K (p.Thr11Lys) variant of KMT2E (Histone reader KMT2E)
T11K (p.Thr11Lys) 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.
T11K (p.Thr11Lys) variant details
- p.Thr11Lys
- gnomAD rs1435711015
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.71
- CADD 23.30
- PolyPhen-2 0.40
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.7e-05)
- Structural context available