G30W (p.Gly30Trp) variant of CACNA1A (O00555)
G30W (p.Gly30Trp) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
G30W (p.Gly30Trp) variant details
- p.Gly30Trp
- ExAC rs774608710
- gnomAD rs774608710
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.47
- MetaLR 0.89
- MetaSVM 0.85
- CADD 29.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available