M1V (p.Met1Val) variant of CACNB2 (Q08289)
M1V (p.Met1Val) in CACNB2 (Q08289) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs746311834
- ClinGen CA5429322
- ClinVar RCV000455907
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- MetaLR 0.40
- MetaSVM -0.40
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available