R4Q (p.Arg4Gln) variant of DIP2B (Q9P265)
R4Q (p.Arg4Gln) in DIP2B (Q9P265) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R4Q (p.Arg4Gln) variant details
- p.Arg4Gln
- gnomAD 12-50505151-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.12
- MetaLR 0.06
- MetaSVM -0.97
- CADD 25.40
- PolyPhen-2 0.36
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available