C30Y (p.Cys30Tyr) variant of CETP (P11597)
C30Y (p.Cys30Tyr) in CETP (P11597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
C30Y (p.Cys30Tyr) variant details
- p.Cys30Tyr
- rs771585518
- ClinGen CA8070745
- ClinVar RCV001771253
- ExAC rs771585518
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.20
- CADD 23.70
- PolyPhen-2 0.81
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00072)
- Structural context available