T44M (p.Thr44Met) variant of DNMT3A (Q9Y6K1)
T44M (p.Thr44Met) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases; Tatton-Brown-Rahman overgrowth syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T44M (p.Thr44Met) variant details
- p.Thr44Met
- rs199643287
- ClinGen CA158313
- cosmic curated COSV53054
- ClinVar RCV000120652
- Likely benign
- Inborn genetic diseases; Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.17
- MetaLR 0.58
- MetaSVM -0.24
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Likely benign (Inborn genetic diseases; Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)