M6V (p.Met6Val) variant of CACNA1D (Q01668)
M6V (p.Met6Val) 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.
M6V (p.Met6Val) variant details
- p.Met6Val
- gnomAD 3-53495182-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.48
- MetaLR 0.68
- MetaSVM 0.22
- CADD 23.60
- PolyPhen-2 0.07
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available