I21F (p.Ile21Phe) variant of CACNB2 (Q08289)
I21F (p.Ile21Phe) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
I21F (p.Ile21Phe) variant details
- p.Ile21Phe
- rs780943798
- gnomAD 10-18141213-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- CADD 20.80
- Most common in the Non-Finnish European population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available