A15P (p.Ala15Pro) variant of CPT2 (P23786)
A15P (p.Ala15Pro) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A15P (p.Ala15Pro) variant details
- p.Ala15Pro
- gnomAD 1-53196986-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.34
- MetaLR 0.37
- MetaSVM -0.73
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available