L648P (p.Leu648Pro) variant of DNMT3A (Q9Y6K1)
L648P (p.Leu648Pro) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
L648P (p.Leu648Pro) variant details
- p.Leu648Pro
- rs587777507
- ClinGen CA163308
- cosmic curated COSV53086
- ClinVar RCV000128559
- Pathogenic
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.98
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Pathogenic (in TBRS)
- UniProt: Pathogenic (in TBRS)
- Population evidence available
- 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)