V29M (p.Val29Met) variant of CETP (P11597)
V29M (p.Val29Met) in CETP (P11597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
V29M (p.Val29Met) variant details
- p.Val29Met
- rs747564264
- ClinGen CA8070744
- ClinVar RCV003863428
- ExAC rs747564264
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.23
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available