A3S (p.Ala3Ser) variant of DNMT3A (Q9Y6K1)
A3S (p.Ala3Ser) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Multiple myeloma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- rs745380962
- ClinGen CA346254529
- ClinVar RCV000984105
- ExAC rs745380962
- Likely pathogenic
- Multiple myeloma
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.24
- MetaLR 0.50
- MetaSVM -0.36
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.93
- ClinVar: Likely pathogenic (Multiple myeloma)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available