G63S (p.Gly63Ser) variant of DNMT3A (Q9Y6K1)
G63S (p.Gly63Ser) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Tatton-Brown-Rahman overgrowth syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G63S (p.Gly63Ser) variant details
- p.Gly63Ser
- rs781108426
- ClinGen CA1556517
- ClinVar RCV002547289
- ClinVar RCV003886459
- Benign/Likely benign
- Tatton-Brown-Rahman overgrowth syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.24
- MetaLR 0.37
- MetaSVM -0.70
- CADD 11.40
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign/Likely benign (Tatton-Brown-Rahman overgrowth syndrome; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)