R45K (p.Arg45Lys) variant of DIP2B (Q9P265)
R45K (p.Arg45Lys) in DIP2B (Q9P265) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R45K (p.Arg45Lys) variant details
- p.Arg45Lys
- gnomAD 12-50626009-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.21
- MetaLR 0.10
- MetaSVM -0.96
- CADD 22.50
- PolyPhen-2 0.18
- SIFT 0.15
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available
- Literature evidence available