R78C (p.Arg78Cys) variant of EZH2 (Q15910)
R78C (p.Arg78Cys) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Weaver syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R78C (p.Arg78Cys) variant details
- p.Arg78Cys
- rs141583753
- ClinGen CA4548189
- cosmic curated COSV10023
- ClinVar RCV001050174
- Benign
- Weaver syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.43
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Benign (Weaver syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: EZH2-Related Overgrowth. (PMID 23865096)