R50K (p.Arg50Lys) variant of KMT2C (Q8NEZ4)
R50K (p.Arg50Lys) 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.
R50K (p.Arg50Lys) variant details
- p.Arg50Lys
- rs913978315
- ClinGen CA370104072
- ClinVar RCV003318967
- Uncertain significance
- not provided
- Missense
- REVEL 0.29
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.76
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.8e-05)