C494S (p.Cys494Ser) variant of DNMT3A (Q9Y6K1)
C494S (p.Cys494Ser) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
C494S (p.Cys494Ser) variant details
- p.Cys494Ser
- rs1240736156
- cosmic curated COSV53080
- ClinGen CA346072483
- NCI-TCGA Cosmic COSV5305
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.64
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)