H12Y (p.His12Tyr) variant of CACNA1D (Q01668)
H12Y (p.His12Tyr) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
H12Y (p.His12Tyr) variant details
- p.His12Tyr
- ExAC rs761000658
- gnomAD rs761000658
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.25
- MetaLR 0.72
- MetaSVM 0.20
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available