L6R (p.Leu6Arg) variant of DIP2B (Q9P265)
L6R (p.Leu6Arg) 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 and structural context.
L6R (p.Leu6Arg) variant details
- p.Leu6Arg
- TOPMed rs1006771450
- gnomAD rs1006771450
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.23
- MetaLR 0.03
- MetaSVM -1.06
- CADD 23.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available