E10K (p.Glu10Lys) variant of KMT2C (Q8NEZ4)
E10K (p.Glu10Lys) in KMT2C (Q8NEZ4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and population frequency data.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- rs1590054120
- ClinGen CA370104647
- cosmic curated COSV51472
- ClinVar RCV003229989
- Uncertain significance
- not provided
- Missense
- REVEL 0.23
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)