R4595C (p.Arg4595Cys) variant of KMT2C (Q8NEZ4)
R4595C (p.Arg4595Cys) in KMT2C (Q8NEZ4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of KMT2C-related NDD. The record also includes variant effect predictions and population frequency data.
R4595C (p.Arg4595Cys) variant details
- p.Arg4595Cys
- NCI-TCGA Cosmic COSV5144
- NCI-TCGA Cosmic COSV5148
- cosmic curated COSV51489
- Ensembl rs2129094917
- Likely pathogenic
- KMT2C-related NDD
- Missense
- REVEL 0.91
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (KMT2C-related NDD)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available