R33L (p.Arg33Leu) variant of DNMT3A (Q9Y6K1)
R33L (p.Arg33Leu) in DNMT3A (Q9Y6K1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R33L (p.Arg33Leu) variant details
- p.Arg33Leu
- cosmic curated COSV53053
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.43
- MetaLR 0.66
- MetaSVM -0.02
- CADD 17.90
- PolyPhen-2 0.03
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available