Y12Y (p.Tyr12Tyr) variant of CACNA1B (Q00975)
Y12Y (p.Tyr12Tyr) in CACNA1B (Q00975) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Y12Y (p.Tyr12Tyr) variant details
- p.Tyr12Tyr
- rs1956856241
- gnomAD 9-137877969-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.319
- CADD 12.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available