M8I (p.Met8Ile) variant of CACNA1A (O00555)
M8I (p.Met8Ile) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
M8I (p.Met8Ile) variant details
- p.Met8Ile
- Ensembl rs1983019847
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.31
- MetaLR 0.70
- MetaSVM 0.20
- CADD 23.00
- PolyPhen-2 0.04
- SIFT 0.00
- Population evidence available
- Structural context available