R76W (p.Arg76Trp) variant of CACNA1A (O00555)
R76W (p.Arg76Trp) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R76W (p.Arg76Trp) variant details
- p.Arg76Trp
- cosmic curated COSV64195
- gnomAD rs1469683674
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.43
- MetaLR 0.28
- MetaSVM -0.59
- CADD 33.00
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available