V48G (p.Val48Gly) variant of DNMT3A (Q9Y6K1)
V48G (p.Val48Gly) in DNMT3A (Q9Y6K1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
V48G (p.Val48Gly) variant details
- p.Val48Gly
- cosmic curated COSV53056
- TOPMed rs1468737197
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.61
- MetaLR 0.81
- MetaSVM 0.79
- CADD 28.00
- PolyPhen-2 0.93
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available