Q3R (p.Gln3Arg) variant of CACNB2 (Q08289)
Q3R (p.Gln3Arg) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
Q3R (p.Gln3Arg) variant details
- p.Gln3Arg
- TOPMed rs1424520121
- gnomAD rs1424520121
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.14
- CADD 19.60
- PolyPhen-2 0.28
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available