G40W (p.Gly40Trp) variant of CACNA1A (O00555)
G40W (p.Gly40Trp) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
G40W (p.Gly40Trp) variant details
- p.Gly40Trp
- cosmic curated COSV10080
- TOPMed rs1240542236
- gnomAD rs1240542236
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.67
- MetaLR 0.91
- MetaSVM 1.02
- CADD 29.40
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available