P66R (p.Pro66Arg) variant of CACNA1A (O00555)
P66R (p.Pro66Arg) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
P66R (p.Pro66Arg) variant details
- p.Pro66Arg
- Ensembl rs1982995548
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.90
- MetaLR 0.93
- MetaSVM 1.06
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available