T30I (p.Thr30Ile) variant of CACNA1D (Q01668)
T30I (p.Thr30Ile) in CACNA1D (Q01668) 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 0.42 / 1. The record also includes population frequency data and structural context.
T30I (p.Thr30Ile) variant details
- p.Thr30Ile
- gnomAD rs2090388068
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.30
- AlphaMissense 0.09
- MetaLR 0.71
- MetaSVM -0.44
- CADD 22.00
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available