G52R (p.Gly52Arg) variant of DNMT3A (Q9Y6K1)
G52R (p.Gly52Arg) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
G52R (p.Gly52Arg) variant details
- p.Gly52Arg
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.56
- MetaLR 0.82
- MetaSVM 0.85
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available