R4L (p.Arg4Leu) variant of DIP2B (Q9P265)
R4L (p.Arg4Leu) in DIP2B (Q9P265) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
R4L (p.Arg4Leu) variant details
- p.Arg4Leu
- TOPMed rs888393696
- gnomAD rs888393696
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.20
- MetaLR 0.06
- MetaSVM -1.04
- CADD 25.30
- PolyPhen-2 0.06
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available