R38L (p.Arg38Leu) variant of DNMT3A (Q9Y6K1)
R38L (p.Arg38Leu) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R38L (p.Arg38Leu) variant details
- p.Arg38Leu
- rs369618387
- ClinGen CA346251707
- ClinVar RCV002957751
- ESP rs369618387
- Uncertain significance
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.45
- MetaLR 0.77
- MetaSVM 0.69
- CADD 25.70
- PolyPhen-2 0.93
- 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 0.00052)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)