Q49R (p.Gln49Arg) variant of KMT2C (Q8NEZ4)
Q49R (p.Gln49Arg) in KMT2C (Q8NEZ4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes variant effect predictions and population frequency data.
Q49R (p.Gln49Arg) variant details
- p.Gln49Arg
- gnomAD rs1443044609
- Uncertain significance
- Inborn genetic diseases
- Missense
- REVEL 0.27
- CADD 21.40
- PolyPhen-2 0.40
- SIFT 0.37
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.4e-05)