S46Y (p.Ser46Tyr) variant of DIP2B (Q9P265)
S46Y (p.Ser46Tyr) in DIP2B (Q9P265) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S46Y (p.Ser46Tyr) variant details
- p.Ser46Tyr
- gnomAD 12-50626012-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.13
- MetaLR 0.19
- MetaSVM -0.66
- CADD 25.70
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available