P11T (p.Pro11Thr) variant of CACNB2 (Q08289)
P11T (p.Pro11Thr) in CACNB2 (Q08289) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P11T (p.Pro11Thr) variant details
- p.Pro11Thr
- rs377258255
- ESP rs377258255
- ExAC rs377258255
- TOPMed rs377258255
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.12
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 0.47
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available