V276I (p.Val276Ile) variant of CACNA2D2 (Q9NY47)
V276I (p.Val276Ile) in CACNA2D2 (Q9NY47) 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 0.39 / 1. The record also includes population frequency data and structural context.
V276I (p.Val276Ile) variant details
- p.Val276Ile
- rs1192786729
- NCI-TCGA Cosmic COSV5656
- cosmic curated COSV56563
- gnomAD rs1192786729
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.22
- AlphaMissense 0.08
- MetaLR 0.02
- MetaSVM -0.98
- CADD 25.60
- PolyPhen-2 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available