A12S (p.Ala12Ser) variant of DIP2B (Q9P265)
A12S (p.Ala12Ser) in DIP2B (Q9P265) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A12S (p.Ala12Ser) variant details
- p.Ala12Ser
- gnomAD 12-50505174-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.07
- MetaLR 0.02
- MetaSVM -1.01
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.58
- Population evidence available
- Structural context available
- Literature evidence available