R55H (p.Arg55His) variant of DNMT3A (Q9Y6K1)
R55H (p.Arg55His) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of DNMT3A-related disorder; Tatton-Brown-Rahman overgrowth syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R55H (p.Arg55His) variant details
- p.Arg55His
- rs1457666600
- ClinGen CA346251599
- NCI-TCGA Cosmic COSV9926
- cosmic curated COSV99262
- Uncertain significance
- DNMT3A-related disorder; Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.48
- MetaLR 0.87
- MetaSVM 0.93
- CADD 28.10
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (DNMT3A-related disorder; Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)