R862H (p.Arg862His) variant of CACNA2D2 (Q9NY47)
R862H (p.Arg862His) in CACNA2D2 (Q9NY47) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R862H (p.Arg862His) variant details
- p.Arg862His
- rs771678835
- NCI-TCGA Cosmic COSV9981
- cosmic curated COSV99817
- ExAC rs771678835
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- AlphaMissense 0.08
- MetaLR 0.21
- MetaSVM -0.88
- PolyPhen-2 0.01
- SIFT 0.30
- MutPred 0.39
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available