P59S (p.Pro59Ser) variant of DNMT3A (Q9Y6K1)
P59S (p.Pro59Ser) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Tatton-Brown-Rahman overgrowth syndrome. The record also includes variant effect predictions and structural context.
P59S (p.Pro59Ser) variant details
- p.Pro59Ser
- cosmic curated COSV53070
- Uncertain significance
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- MetaLR 0.55
- MetaSVM -0.02
- SIFT 0.15
- ClinVar: Uncertain significance (Tatton-Brown-Rahman overgrowth syndrome)
- UniProt: Uncertain significance
- Structural context available