R37W (p.Arg37Trp) variant of CACNA1A (O00555)
R37W (p.Arg37Trp) in CACNA1A (O00555) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R37W (p.Arg37Trp) variant details
- p.Arg37Trp
- cosmic curated COSV10592
- ExAC rs780987148
- gnomAD rs780987148
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.42
- MetaLR 0.83
- MetaSVM 0.18
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available