P89S (p.Pro89Ser) variant of DNMT3A (Q9Y6K1)
P89S (p.Pro89Ser) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Tatton-Brown-Rahman overgrowth syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
P89S (p.Pro89Ser) variant details
- p.Pro89Ser
- rs2031969934
- ClinGen CA346084026
- ClinVar RCV002279023
- ClinVar RCV003746613
- Uncertain significance
- not provided; Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- AlphaMissense 0.09
- MetaLR 0.83
- MetaSVM 0.53
- PolyPhen-2 0.98
- SIFT 0.01
- MutPred 0.29
- ClinVar: Uncertain significance (not provided; Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)