P11S (p.Pro11Ser) variant of CACNB2 (Q08289)
P11S (p.Pro11Ser) in CACNB2 (Q08289) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P11S (p.Pro11Ser) variant details
- p.Pro11Ser
- ESP rs377258255
- ExAC rs377258255
- TOPMed rs377258255
- gnomAD rs377258255
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.18
- CADD 17.60
- PolyPhen-2 0.02
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available