R45S (p.Arg45Ser) variant of DIP2B (Q9P265)
R45S (p.Arg45Ser) in DIP2B (Q9P265) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R45S (p.Arg45Ser) variant details
- p.Arg45Ser
- ESP rs370478703
- ExAC rs370478703
- TOPMed rs370478703
- gnomAD rs370478703
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.34
- MetaLR 0.30
- MetaSVM -0.54
- CADD 23.10
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available