T65M (p.Thr65Met) variant of DNMT3A (Q9Y6K1)
T65M (p.Thr65Met) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tatton-Brown-Rahman overgrowth syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
T65M (p.Thr65Met) variant details
- p.Thr65Met
- rs778149141
- ClinGen CA1556512
- cosmic curated COSV10586
- ClinVar RCV003747415
- Uncertain significance
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.34
- MetaLR 0.74
- MetaSVM 0.57
- CADD 18.50
- PolyPhen-2 0.11
- SIFT 0.01
- ClinVar: Uncertain significance (Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BRAHUI population (allele frequency 0.022)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)