N507S (p.Asn507Ser) variant of CACNA2D2 (Q9NY47)
N507S (p.Asn507Ser) 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 0.35 / 1. The record also includes population frequency data and structural context.
N507S (p.Asn507Ser) variant details
- p.Asn507Ser
- NCI-TCGA TCGA novel
- TOPMed rs1705066492
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.19
- MetaLR 0.04
- MetaSVM -1.05
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available