K21E (p.Lys21Glu) variant of ASH1L (Q9NR48)
K21E (p.Lys21Glu) in ASH1L (Q9NR48) 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.
K21E (p.Lys21Glu) variant details
- p.Lys21Glu
- rs2524745507
- ClinGen CA342716705
- ClinVar RCV002291915
- Uncertain significance
- not provided
- Missense
- REVEL 0.39
- CADD 25.80
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)