P21S (p.Pro21Ser) variant of CACNA1S (Q13698)
P21S (p.Pro21Ser) in CACNA1S (Q13698) 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 0.38 / 1. The record also includes population frequency data and structural context.
P21S (p.Pro21Ser) variant details
- p.Pro21Ser
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10075
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.14
- CADD 21.60
- PolyPhen-2 0.14
- SIFT 0.23
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available