P8L (p.Pro8Leu) variant of DIP2B (Q9P265)
P8L (p.Pro8Leu) in DIP2B (Q9P265) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- gnomAD 12-50505163-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.11
- MetaLR 0.02
- MetaSVM -1.00
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available