S204L (p.Ser204Leu) variant of CACNA2D2 (Q9NY47)
S204L (p.Ser204Leu) in CACNA2D2 (Q9NY47) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
S204L (p.Ser204Leu) variant details
- p.Ser204Leu
- rs887415177
- NCI-TCGA Cosmic COSV9981
- cosmic curated COSV99817
- Ensembl rs887415177
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- AlphaMissense 0.27
- MetaLR 0.05
- MetaSVM -1.21
- PolyPhen-2 0.93
- SIFT 0.00
- MutPred 0.78
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available