S32L (p.Ser32Leu) variant of DIP2B (Q9P265)
S32L (p.Ser32Leu) in DIP2B (Q9P265) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S32L (p.Ser32Leu) variant details
- p.Ser32Leu
- gnomAD 12-50505235-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.23
- MetaLR 0.21
- MetaSVM -0.64
- CADD 28.10
- PolyPhen-2 0.54
- SIFT 0.20
- Most common in the South Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available