K299Q (p.Lys299Gln) variant of DNMT3A (Q9Y6K1)
K299Q (p.Lys299Gln) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
K299Q (p.Lys299Gln) variant details
- p.Lys299Gln
- rs766858016
- ClinGen CA10588955
- ClinVar RCV000256441
- ExAC rs766858016
- Likely pathogenic
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.93
- CADD 27.70
- PolyPhen-2 0.96
- SIFT 0.04
- ClinVar: Likely pathogenic (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)