G36V (p.Gly36Val) variant of CACNA1D (Q01668)
G36V (p.Gly36Val) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
G36V (p.Gly36Val) variant details
- p.Gly36Val
- gnomAD 3-53497191-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.51
- MetaLR 0.81
- MetaSVM 0.68
- CADD 24.30
- PolyPhen-2 0.19
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available