L508P (p.Leu508Pro) variant of DNMT3A (Q9Y6K1)
L508P (p.Leu508Pro) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Paediatric disorders; Tatton-Brown-Rahman overgrowth syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
L508P (p.Leu508Pro) variant details
- p.Leu508Pro
- rs1056677010
- ClinGen CA43704269
- ClinVar RCV003747530
- Ensembl rs1056677010
- Pathogenic/Likely pathogenic
- Paediatric disorders; Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.94
- CADD 28.30
- PolyPhen-2 0.46
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Paediatric disorders; Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)