S185N (p.Ser185Asn) variant of CACNA2D2 (Q9NY47)
S185N (p.Ser185Asn) 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 0.19 / 1. The record also includes population frequency data and structural context.
S185N (p.Ser185Asn) variant details
- p.Ser185Asn
- rs969458402
- NCI-TCGA Cosmic COSV5656
- cosmic curated COSV56560
- Ensembl rs969458402
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.04
- AlphaMissense 0.08
- MetaLR 0.01
- MetaSVM -0.92
- CADD 12.70
- 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