K47R (p.Lys47Arg) variant of DIP2B (Q9P265)
K47R (p.Lys47Arg) in DIP2B (Q9P265) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
K47R (p.Lys47Arg) variant details
- p.Lys47Arg
- gnomAD rs1937926893
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.22
- MetaLR 0.19
- MetaSVM -0.90
- CADD 23.70
- PolyPhen-2 0.95
- SIFT 0.07
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available