M3V (p.Met3Val) variant of CACNA1D (Q01668)
M3V (p.Met3Val) in CACNA1D (Q01668) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
M3V (p.Met3Val) variant details
- p.Met3Val
- gnomAD rs2090291645
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.46
- MetaLR 0.70
- MetaSVM 0.23
- CADD 23.50
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available