S42G (p.Ser42Gly) variant of DNMT3A (Q9Y6K1)
S42G (p.Ser42Gly) in DNMT3A (Q9Y6K1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S42G (p.Ser42Gly) variant details
- p.Ser42Gly
- gnomAD rs1465039597
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.15
- MetaLR 0.53
- MetaSVM -0.32
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available