K47E (p.Lys47Glu) variant of DIP2B (Q9P265)
K47E (p.Lys47Glu) in DIP2B (Q9P265) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
K47E (p.Lys47Glu) variant details
- p.Lys47Glu
- ExAC rs764064387
- gnomAD rs764064387
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.22
- MetaLR 0.26
- MetaSVM -0.65
- CADD 25.90
- PolyPhen-2 0.90
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available