W306R (p.Trp306Arg) variant of DNMT3A (Q9Y6K1)
W306R (p.Trp306Arg) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Heyn-Sproul-Jackson syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes structural context.
W306R (p.Trp306Arg) variant details
- p.Trp306Arg
- rs2149307985
- Ensembl rs2149307985
- ClinGen CA346075104
- ClinVar RCV003991135
- Likely pathogenic
- Heyn-Sproul-Jackson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Likely pathogenic (Heyn-Sproul-Jackson syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available