G5C (p.Gly5Cys) variant of DIP2B (Q9P265)
G5C (p.Gly5Cys) in DIP2B (Q9P265) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G5C (p.Gly5Cys) variant details
- p.Gly5Cys
- gnomAD 12-50505153-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.16
- MetaLR 0.08
- MetaSVM -1.02
- CADD 29.00
- PolyPhen-2 0.71
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available