M3I (p.Met3Ile) variant of CACNA1D (Q01668)
M3I (p.Met3Ile) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
M3I (p.Met3Ile) variant details
- p.Met3Ile
- gnomAD 3-53495175-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.43
- MetaLR 0.71
- MetaSVM 0.26
- CADD 24.00
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available