D6E (p.Asp6Glu) variant of CACNA1A (O00555)
D6E (p.Asp6Glu) in CACNA1A (O00555) 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 and structural context.
D6E (p.Asp6Glu) variant details
- p.Asp6Glu
- cosmic curated COSV64189
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.21
- MetaLR 0.67
- MetaSVM 0.02
- CADD 21.80
- PolyPhen-2 1.00
- SIFT 0.02
- Population evidence available
- Structural context available