F902S (p.Phe902Ser) variant of DNMT3A (Q9Y6K1)
F902S (p.Phe902Ser) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
F902S (p.Phe902Ser) variant details
- p.Phe902Ser
- rs587777510
- ClinGen CA163326
- cosmic curated COSV10959
- ClinVar RCV000128562
- Pathogenic
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.97
- MetaLR 0.92
- MetaSVM 1.01
- CADD 32.00
- PolyPhen-2 0.97
- 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 9e-07)
- 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)