G302A (p.Gly302Ala) variant of DNMT3A (Q9Y6K1)
G302A (p.Gly302Ala) 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 0.69 / 1. The record also includes structural context.
G302A (p.Gly302Ala) variant details
- p.Gly302Ala
- rs1674986110
- ClinGen CA346075172
- ClinVar RCV003228061
- Ensembl rs1674986110
- Likely pathogenic
- Heyn-Sproul-Jackson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- AlphaMissense 0.99
- MetaLR 0.66
- MetaSVM 0.44
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Likely pathogenic (Heyn-Sproul-Jackson syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available