S30L (p.Ser30Leu) variant of POLE (Q07864)
S30L (p.Ser30Leu) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S30L (p.Ser30Leu) variant details
- p.Ser30Leu
- rs997586826
- ClinGen CA246303564
- cosmic curated COSV57675
- ClinVar RCV003539954
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.20
- CADD 23.30
- PolyPhen-2 0.09
- SIFT 0.01
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Colorectal Cancer (PDQ®): Health Professional Version. (PMID 26389505)