V29L (p.Val29Leu) variant of CACNB2 (Q08289)
V29L (p.Val29Leu) in CACNB2 (Q08289) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
V29L (p.Val29Leu) variant details
- p.Val29Leu
- rs750972281
- ExAC rs750972281
- TOPMed rs750972281
- gnomAD rs750972281
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.12
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available