G28R (p.Gly28Arg) variant of CACNA1A (O00555)
G28R (p.Gly28Arg) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
G28R (p.Gly28Arg) variant details
- p.Gly28Arg
- cosmic curated COSV64208
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.39
- MetaLR 0.77
- MetaSVM 0.03
- CADD 23.10
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available