R56Q (p.Arg56Gln) variant of KMT2C (Q8NEZ4)
R56Q (p.Arg56Gln) in KMT2C (Q8NEZ4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The record also includes variant effect predictions and population frequency data.
R56Q (p.Arg56Gln) variant details
- p.Arg56Gln
- rs1403418496
- ClinGen CA370197785
- NCI-TCGA Cosmic COSV5134
- cosmic curated COSV51343
- Likely benign
- not provided
- Missense
- REVEL 0.27
- CADD 25.10
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 6.1e-05)