P59L (p.Pro59Leu) variant of DNMT3A (Q9Y6K1)
P59L (p.Pro59Leu) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P59L (p.Pro59Leu) variant details
- p.Pro59Leu
- cosmic curated COSV53040
- ExAC rs772542252
- TOPMed rs772542252
- gnomAD rs772542252
- Uncertain significance
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.23
- MetaLR 0.43
- MetaSVM -0.61
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Tatton-Brown-Rahman overgrowth syndrome)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available