M78V (p.Met78Val) variant of DNMT3A (Q9Y6K1)
M78V (p.Met78Val) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
M78V (p.Met78Val) variant details
- p.Met78Val
- rs2465822722
- ClinGen CA346084098
- ClinVar RCV003034500
- Uncertain significance
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.19
- MetaLR 0.51
- MetaSVM -0.55
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Uncertain significance (Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)