M6I (p.Met6Ile) variant of CACNB2 (Q08289)
M6I (p.Met6Ile) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
M6I (p.Met6Ile) variant details
- p.Met6Ile
- gnomAD 10-18140754-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.28
- CADD 23.30
- PolyPhen-2 0.09
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available