R41C (p.Arg41Cys) variant of KMT2C (Q8NEZ4)
R41C (p.Arg41Cys) in KMT2C (Q8NEZ4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and population frequency data.
R41C (p.Arg41Cys) variant details
- p.Arg41Cys
- NCI-TCGA Cosmic COSV5143
- cosmic curated COSV51435
- NCI-TCGA Cosmic COSV9903
- Uncertain significance
- not provided
- Missense
- REVEL 0.50
- CADD 26.20
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available