S427F (p.Ser427Phe) variant of CACNA2D2 (Q9NY47)
S427F (p.Ser427Phe) 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 0.78 / 1. The record also includes population frequency data and structural context.
S427F (p.Ser427Phe) variant details
- p.Ser427Phe
- NCI-TCGA Cosmic COSV5656
- cosmic curated COSV56562
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.82
- MetaLR 0.66
- MetaSVM 0.31
- CADD 29.60
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available