M397V (p.Met397Val) variant of CACNA2D2 (Q9NY47)
M397V (p.Met397Val) in CACNA2D2 (Q9NY47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
M397V (p.Met397Val) variant details
- p.Met397Val
- rs142559701
- ClinGen CA2418950
- cosmic curated COSV56564
- ClinVar RCV006466305
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.80
- MetaLR 0.52
- MetaSVM 0.08
- CADD 25.70
- PolyPhen-2 0.20
- SIFT 0.00
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available