V50L (p.Val50Leu) variant of CACNA1D (Q01668)
V50L (p.Val50Leu) 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 0.57 / 1. The record also includes population frequency data and structural context.
V50L (p.Val50Leu) variant details
- p.Val50Leu
- rs888119455
- ClinGen CA75053228
- ClinVar RCV003817224
- TOPMed rs888119455
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.43
- MetaLR 0.76
- MetaSVM 0.31
- CADD 22.00
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available