G14R (p.Gly14Arg) variant of CACNA1A (O00555)
G14R (p.Gly14Arg) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
G14R (p.Gly14Arg) variant details
- p.Gly14Arg
- cosmic curated COSV10527
- Ensembl rs2145192995
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.68
- MetaLR 0.92
- MetaSVM 1.06
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available