P31S (p.Pro31Ser) variant of CACNB2 (Q08289)
P31S (p.Pro31Ser) 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 0.30 / 1. The record also includes population frequency data and structural context.
P31S (p.Pro31Ser) variant details
- p.Pro31Ser
- NCI-TCGA Cosmic COSV9999
- cosmic curated COSV99992
- ExAC rs766827150
- TOPMed rs766827150
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.21
- CADD 19.30
- PolyPhen-2 0.01
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available