L373P (p.Leu373Pro) variant of DNMT3A (Q9Y6K1)
L373P (p.Leu373Pro) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Tatton-Brown-Rahman overgrowth syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
L373P (p.Leu373Pro) variant details
- p.Leu373Pro
- cosmic curated COSV53067
- Likely pathogenic
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.86
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Tatton-Brown-Rahman overgrowth syndrome)
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available