I21T (p.Ile21Thr) variant of CACNB2 (Q08289)
I21T (p.Ile21Thr) in CACNB2 (Q08289) 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, published literature, and structural context.
I21T (p.Ile21Thr) variant details
- p.Ile21Thr
- rs2030355651
- gnomAD 10-18141214-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 20.70
- Most common in the Latino/Admixed American population (allele frequency 7e-05)
- Structural context available
- Literature evidence available