T40M (p.Thr40Met) variant of CACNA1D (Q01668)
T40M (p.Thr40Met) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
T40M (p.Thr40Met) variant details
- p.Thr40Met
- rs1336440506
- gnomAD 3-53329415-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- CADD 11.50
- SIFT 0.18
- Most common in the South Asian population (allele frequency 0.00033)
- Structural context available
- Literature evidence available