M10I (p.Met10Ile) variant of CACNA1D (Q01668)
M10I (p.Met10Ile) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
M10I (p.Met10Ile) variant details
- p.Met10Ile
- ESP rs369742276
- ExAC rs369742276
- TOPMed rs369742276
- gnomAD rs369742276
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.23
- MetaLR 0.66
- MetaSVM 0.13
- CADD 24.90
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available