S77F (p.Ser77Phe) variant of DNMT3A (Q9Y6K1)
S77F (p.Ser77Phe) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S77F (p.Ser77Phe) variant details
- p.Ser77Phe
- rs2031973986
- ClinGen CA346084102
- ClinVar RCV001330537
- Ensembl rs2031973986
- Uncertain significance
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.33
- MetaLR 0.71
- MetaSVM 0.53
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.07
- ClinVar: Uncertain significance (Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)