P5S (p.Pro5Ser) variant of DNMT3A (Q9Y6K1)
P5S (p.Pro5Ser) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
P5S (p.Pro5Ser) variant details
- p.Pro5Ser
- rs1364437125
- ClinGen CA346254514
- ClinVar RCV003747657
- gnomAD rs1364437125
- Uncertain significance
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.57
- MetaLR 0.80
- MetaSVM 0.85
- CADD 23.20
- PolyPhen-2 0.64
- SIFT 0.00
- ClinVar: Uncertain significance (Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)