Q22P (p.Gln22Pro) variant of CACNB2 (Q08289)
Q22P (p.Gln22Pro) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
Q22P (p.Gln22Pro) variant details
- p.Gln22Pro
- gnomAD 10-18140801-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.13
- CADD 16.70
- PolyPhen-2 0.02
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available