S7G (p.Ser7Gly) variant of DNMT3A (Q9Y6K1)
S7G (p.Ser7Gly) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S7G (p.Ser7Gly) variant details
- p.Ser7Gly
- rs770554124
- ClinGen CA1556576
- ClinVar RCV002720937
- ExAC rs770554124
- Uncertain significance
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.23
- MetaLR 0.60
- MetaSVM -0.08
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)