A11S (p.Ala11Ser) variant of DIP2B (Q9P265)
A11S (p.Ala11Ser) in DIP2B (Q9P265) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A11S (p.Ala11Ser) variant details
- p.Ala11Ser
- gnomAD 12-50505171-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.03
- MetaLR 0.03
- MetaSVM -1.03
- CADD 21.30
- PolyPhen-2 0.03
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available