V50I (p.Val50Ile) variant of CACNA1D (Q01668)
V50I (p.Val50Ile) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
V50I (p.Val50Ile) variant details
- p.Val50Ile
- gnomAD 3-53497232-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.42
- MetaLR 0.75
- MetaSVM 0.44
- CADD 22.20
- PolyPhen-2 0.04
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available