M8T (p.Met8Thr) variant of CACNA1A (O00555)
M8T (p.Met8Thr) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
M8T (p.Met8Thr) variant details
- p.Met8Thr
- cosmic curated COSV10080
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.35
- MetaLR 0.74
- MetaSVM 0.46
- CADD 22.80
- PolyPhen-2 0.22
- SIFT 0.00
- Population evidence available
- Structural context available