G726V (p.Gly726Val) variant of DNMT3A (Q9Y6K1)
G726V (p.Gly726Val) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G726V (p.Gly726Val) variant details
- p.Gly726Val
- rs1432383727
- ClinGen CA346070411
- ClinVar RCV003330172
- TOPMed rs1432383727
- Pathogenic
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.95
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)