T49I (p.Thr49Ile) variant of CACNA1D (Q01668)
T49I (p.Thr49Ile) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
T49I (p.Thr49Ile) variant details
- p.Thr49Ile
- ExAC rs746130121
- gnomAD rs746130121
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.39
- MetaLR 0.82
- MetaSVM 0.66
- CADD 22.70
- PolyPhen-2 0.16
- SIFT 0.00
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available