G17C (p.Gly17Cys) variant of CPT2 (P23786)
G17C (p.Gly17Cys) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G17C (p.Gly17Cys) variant details
- p.Gly17Cys
- rs2100254762
- ClinGen CA340388639
- ClinVar RCV001732833
- Ensembl rs2100254762
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.28
- MetaLR 0.37
- MetaSVM -0.56
- CADD 17.60
- PolyPhen-2 0.32
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available