A37T (p.Ala37Thr) variant of CACNB2 (Q08289)
A37T (p.Ala37Thr) in CACNB2 (Q08289) 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 0.37 / 1. The record also includes population frequency data and structural context.
A37T (p.Ala37Thr) variant details
- p.Ala37Thr
- rs1422197851
- gnomAD rs1422197851
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.21
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.56
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available