Q3H (p.Gln3His) variant of CACNB2 (Q08289)
Q3H (p.Gln3His) 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.
Q3H (p.Gln3His) variant details
- p.Gln3His
- rs1336540034
- gnomAD 10-18141188-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 17.70
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available