M6T (p.Met6Thr) variant of CACNB2 (Q08289)
M6T (p.Met6Thr) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
M6T (p.Met6Thr) variant details
- p.Met6Thr
- gnomAD 10-18140753-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.14
- CADD 22.70
- PolyPhen-2 0.18
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available