S6A (p.Ser6Ala) variant of DNMT3A (Q9Y6K1)
S6A (p.Ser6Ala) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases; Tatton-Brown-Rahman overgrowth syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S6A (p.Ser6Ala) variant details
- p.Ser6Ala
- rs773893946
- ClinGen CA1556577
- ClinVar RCV000949244
- ClinVar RCV001545677
- Likely benign
- Inborn genetic diseases; Tatton-Brown-Rahman overgrowth syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.20
- MetaLR 0.56
- MetaSVM -0.37
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Likely benign (Inborn genetic diseases; Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)