Q23H (p.Gln23His) variant of DIP2B (Q9P265)
Q23H (p.Gln23His) in DIP2B (Q9P265) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
Q23H (p.Gln23His) variant details
- p.Gln23His
- gnomAD 12-50505209-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.18
- MetaLR 0.12
- MetaSVM -0.90
- CADD 25.30
- PolyPhen-2 0.66
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available