T49T (p.Thr49Thr) variant of CACNA1D (Q01668)
T49T (p.Thr49Thr) in CACNA1D (Q01668) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
T49T (p.Thr49Thr) variant details
- p.Thr49Thr
- rs769710409
- gnomAD 3-53497231-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.128
- CADD 6.67
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available