T14M (p.Thr14Met) variant of KMT2E (Histone reader KMT2E)
T14M (p.Thr14Met) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
T14M (p.Thr14Met) variant details
- p.Thr14Met
- Ensembl rs1018642770
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.62
- CADD 26.40
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available