M4I (p.Met4Ile) variant of CACNA1D (Q01668)
M4I (p.Met4Ile) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
M4I (p.Met4Ile) variant details
- p.Met4Ile
- TOPMed rs1313813677
- gnomAD rs1313813677
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.40
- MetaLR 0.70
- MetaSVM 0.17
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available