A22T (p.Ala22Thr) variant of DIP2B (Q9P265)
A22T (p.Ala22Thr) in DIP2B (Q9P265) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A22T (p.Ala22Thr) variant details
- p.Ala22Thr
- gnomAD 12-50505204-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.05
- CADD 23.00
- PolyPhen-2 0.11
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available