A2S (p.Ala2Ser) variant of DIP2B (Q9P265)
A2S (p.Ala2Ser) in DIP2B (Q9P265) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 12-50505144-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.07
- MetaLR 0.04
- MetaSVM -1.04
- CADD 23.50
- PolyPhen-2 0.11
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available