A21G (p.Ala21Gly) variant of CACNA1D (Q01668)
A21G (p.Ala21Gly) in CACNA1D (Q01668) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A21G (p.Ala21Gly) variant details
- p.Ala21Gly
- rs2090293548
- ClinGen CA353381646
- ClinVar RCV003574303
- gnomAD rs2090293548
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.24
- MetaLR 0.72
- MetaSVM 0.33
- CADD 22.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available