Y12C (p.Tyr12Cys) variant of CACNA1B (Q00975)
Y12C (p.Tyr12Cys) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
Y12C (p.Tyr12Cys) variant details
- p.Tyr12Cys
- TOPMed rs1447557762
- gnomAD rs1447557762
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.44
- MetaLR 0.83
- MetaSVM 0.66
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.8e-06)
- Structural context available