P904L (p.Pro904Leu) variant of DNMT3A (Q9Y6K1)
P904L (p.Pro904Leu) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Tatton-Brown-Rahman overgrowth syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
P904L (p.Pro904Leu) variant details
- p.Pro904Leu
- rs149095705
- ClinGen CA1555464
- cosmic curated COSV53041
- ClinVar RCV000413992
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Tatton-Brown-Rahman overgrowth syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.94
- MetaLR 0.93
- MetaSVM 1.03
- CADD 29.00
- PolyPhen-2 0.73
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Pathogenic (in TBRS)
- UniProt: Pathogenic (in TBRS)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. (PMID 24614070)
- Cited in: American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay… (PMID 16301868)