R659H (p.Arg659His) variant of DNMT3A (Q9Y6K1)
R659H (p.Arg659His) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Tatton-Brown-Rahman overgrowth syndrome; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R659H (p.Arg659His) variant details
- p.Arg659His
- rs752434188
- ClinGen CA1555804
- NCI-TCGA Cosmic COSV5303
- cosmic curated COSV53039
- Conflicting interpretations
- Inborn genetic diseases; Tatton-Brown-Rahman overgrowth syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.60
- CADD 24.20
- PolyPhen-2 0.06
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases; Tatton-Brown-Rahman overg)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)