A22V (p.Ala22Val) variant of DIP2B (Q9P265)
A22V (p.Ala22Val) in DIP2B (Q9P265) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- gnomAD rs1351054893
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.06
- MetaLR 0.08
- MetaSVM -1.02
- CADD 23.10
- PolyPhen-2 0.15
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available