T40T (p.Thr40Thr) variant of CACNA1D (Q01668)
T40T (p.Thr40Thr) in CACNA1D (Q01668) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
T40T (p.Thr40Thr) variant details
- p.Thr40Thr
- rs1412790289
- gnomAD 3-53329416-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0839
- CADD 0.46
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available