M78T (p.Met78Thr) variant of DNMT3A (Q9Y6K1)
M78T (p.Met78Thr) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases; Tatton-Brown-Rahman overgrowth syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
M78T (p.Met78Thr) variant details
- p.Met78Thr
- rs1558705159
- ClinGen CA346084095
- ClinVar RCV001759173
- ClinVar RCV004980679
- Uncertain significance
- not provided; Inborn genetic diseases; Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.21
- MetaLR 0.52
- MetaSVM -0.50
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Tatton-Brown-Rahman overg)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 7.2e-05)
- 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)