I310N (p.Ile310Asn) variant of DNMT3A (Q9Y6K1)
I310N (p.Ile310Asn) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Tatton-Brown-Rahman overgrowth syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
I310N (p.Ile310Asn) variant details
- p.Ile310Asn
- rs587777508
- ClinGen CA163314
- ClinVar RCV000128560
- UniProt VAR 071463
- Pathogenic
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.96
- CADD 29.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Pathogenic (in TBRS)
- UniProt: Pathogenic (in TBRS)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. (PMID 24614070)
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)