G29A (p.Gly29Ala) variant of CACNA1D (Q01668)
G29A (p.Gly29Ala) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G29A (p.Gly29Ala) variant details
- p.Gly29Ala
- gnomAD 3-53497170-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.34
- MetaLR 0.77
- MetaSVM -0.61
- CADD 23.00
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available