R14Q (p.Arg14Gln) variant of CACNA1D (Q01668)
R14Q (p.Arg14Gln) 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 0.48 / 1. The record also includes population frequency data and structural context.
R14Q (p.Arg14Gln) variant details
- p.Arg14Gln
- rs776581643
- ClinGen CA2453592
- ClinVar RCV001984397
- ExAC rs776581643
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.29
- MetaLR 0.69
- MetaSVM 0.15
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available