A21S (p.Ala21Ser) variant of CACNA1B (Q00975)
A21S (p.Ala21Ser) in CACNA1B (Q00975) is a missense change. Clinical records from ClinVar 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 0.33 / 1. The record also includes population frequency data and structural context.
A21S (p.Ala21Ser) variant details
- p.Ala21Ser
- Ensembl rs1449707857
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.25
- MetaLR 0.70
- MetaSVM -0.05
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5e-05)
- Structural context available