S62R (p.Ser62Arg) variant of DNMT3A (Q9Y6K1)
S62R (p.Ser62Arg) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar 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 0.46 / 1. The record also includes population frequency data and structural context.
S62R (p.Ser62Arg) variant details
- p.Ser62Arg
- cosmic curated COSV53068
- Uncertain significance
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.43
- MetaLR 0.79
- MetaSVM 0.73
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Tatton-Brown-Rahman overgrowth syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available