S85P (p.Ser85Pro) variant of DNMT3A (Q9Y6K1)
S85P (p.Ser85Pro) in DNMT3A (Q9Y6K1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S85P (p.Ser85Pro) variant details
- p.Ser85Pro
- ExAC rs760236260
- gnomAD rs760236260
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.36
- MetaLR 0.51
- MetaSVM -0.25
- CADD 19.80
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available