S62N (p.Ser62Asn) variant of DNMT3A (Q9Y6K1)
S62N (p.Ser62Asn) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S62N (p.Ser62Asn) variant details
- p.Ser62Asn
- rs2465823184
- ClinGen CA346084195
- ClinVar RCV002572791
- Uncertain significance
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.27
- MetaLR 0.63
- MetaSVM 0.13
- CADD 20.40
- 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 2.8e-06)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)