A14T (p.Ala14Thr) variant of DIP2B (Q9P265)
A14T (p.Ala14Thr) 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 and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- TOPMed rs1193179828
- gnomAD rs1193179828
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.16
- MetaLR 0.07
- MetaSVM -1.02
- CADD 22.50
- PolyPhen-2 0.12
- SIFT 0.59
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available