P41L (p.Pro41Leu) variant of DNMT3A (Q9Y6K1)
P41L (p.Pro41Leu) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
P41L (p.Pro41Leu) variant details
- p.Pro41Leu
- rs1398341368
- ClinGen CA346251685
- ClinVar RCV001246960
- TOPMed rs1398341368
- Uncertain significance
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- AlphaMissense 0.07
- MetaLR 0.61
- MetaSVM 0.32
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.35
- 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)