S75F (p.Ser75Phe) variant of DNMT3A (Q9Y6K1)
S75F (p.Ser75Phe) in DNMT3A (Q9Y6K1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S75F (p.Ser75Phe) variant details
- p.Ser75Phe
- cosmic curated COSV10959
- ExAC rs750339895
- gnomAD rs750339895
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.22
- MetaLR 0.63
- MetaSVM 0.21
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 5.5e-06)
- Structural context available