R659C (p.Arg659Cys) variant of DNMT3A (Q9Y6K1)
R659C (p.Arg659Cys) 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; Tatton-Brown-Rahman overgrowth syndrome; Heyn-Sproul-Ja. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R659C (p.Arg659Cys) variant details
- p.Arg659Cys
- rs755982635
- NCI-TCGA Cosmic COSV5306
- cosmic curated COSV53065
- NCI-TCGA Cosmic COSV9926
- Uncertain significance
- Inborn genetic diseases; Tatton-Brown-Rahman overgrowth syndrome; Heyn-Sproul-Ja
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.57
- CADD 25.50
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available