A55V (p.Ala55Val) variant of CACNA1D (Q01668)
A55V (p.Ala55Val) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A55V (p.Ala55Val) variant details
- p.Ala55Val
- rs1238806442
- gnomAD 3-53329436-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- CADD 17.20
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available