S89C (p.Ser89Cys) variant of CHM (P24386)
S89C (p.Ser89Cys) in CHM (P24386) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided; Choroideremia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S89C (p.Ser89Cys) variant details
- p.Ser89Cys
- rs145707160
- ClinGen CA10465618
- cosmic curated COSV62566
- ClinVar RCV000441588
- Benign
- not specified; not provided; Choroideremia
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.10
- MetaLR 0.05
- MetaSVM -1.06
- CADD 20.20
- PolyPhen-2 0.04
- SIFT 0.14
- ClinVar: Benign (not specified; not provided; Choroideremia)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:SARDINIAN population (allele frequency 0.077)
- Structural context available
- Cited in: CEBPA-Associated Familial Acute Myeloid Leukemia (AML). (PMID 20963938)
- Cited in: NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. (PMID 22138009)