R38H (p.Arg38His) variant of DNMT3A (Q9Y6K1)
R38H (p.Arg38His) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tatton-Brown-Rahman overgrowth syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R38H (p.Arg38His) variant details
- p.Arg38His
- rs369618387
- ClinGen CA1556548
- cosmic curated COSV53038
- ClinVar RCV001837416
- Uncertain significance
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.36
- MetaLR 0.77
- MetaSVM 0.71
- CADD 26.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)