A34S (p.Ala34Ser) variant of CACNB2 (Q08289)
A34S (p.Ala34Ser) in CACNB2 (Q08289) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A34S (p.Ala34Ser) variant details
- p.Ala34Ser
- rs754097169
- ClinGen CA301875
- cosmic curated COSV10608
- ClinVar RCV000170878
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.13
- CADD 20.80
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SARDINIAN population (allele frequency 0.019)
- Structural context available