R4P (p.Arg4Pro) variant of DIP2B (Q9P265)
R4P (p.Arg4Pro) in DIP2B (Q9P265) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R4P (p.Arg4Pro) variant details
- p.Arg4Pro
- rs888393696
- ClinGen CA236782368
- ClinVar RCV004258728
- TOPMed rs888393696
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.23
- MetaLR 0.08
- MetaSVM -0.96
- CADD 29.00
- PolyPhen-2 0.58
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available