A27V (p.Ala27Val) variant of CPT2 (P23786)
A27V (p.Ala27Val) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- TOPMed rs1645327264
- gnomAD rs1645327264
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.18
- MetaLR 0.35
- MetaSVM -0.69
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available