Q3K (p.Gln3Lys) variant of CACNB2 (Q08289)
Q3K (p.Gln3Lys) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Q3K (p.Gln3Lys) variant details
- p.Gln3Lys
- gnomAD 10-18140743-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.11
- CADD 22.60
- PolyPhen-2 0.18
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available