D11N (p.Asp11Asn) variant of DNMT3A (Q9Y6K1)
D11N (p.Asp11Asn) 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 0.53 / 1. The record also includes population frequency data and structural context.
D11N (p.Asp11Asn) variant details
- p.Asp11Asn
- TOPMed rs2034257910
- Uncertain significance
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.29
- MetaLR 0.81
- MetaSVM 0.69
- CADD 23.40
- PolyPhen-2 0.54
- SIFT 0.32
- ClinVar: Uncertain significance (Tatton-Brown-Rahman overgrowth syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available