P17Q (p.Pro17Gln) variant of DIP2B (Q9P265)
P17Q (p.Pro17Gln) in DIP2B (Q9P265) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
P17Q (p.Pro17Gln) variant details
- p.Pro17Gln
- gnomAD 12-50505190-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.57
- MetaLR 0.82
- MetaSVM 0.75
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available