N90S (p.Asn90Ser) variant of DNMT3A (Q9Y6K1)
N90S (p.Asn90Ser) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
N90S (p.Asn90Ser) variant details
- p.Asn90Ser
- rs769476651
- ClinGen CA1556499
- ClinVar RCV002890795
- ExAC rs769476651
- Uncertain significance
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.36
- MetaLR 0.76
- MetaSVM 0.44
- CADD 24.70
- PolyPhen-2 0.64
- SIFT 0.03
- ClinVar: Uncertain significance (Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)