P14L (p.Pro14Leu) variant of CPT2 (P23786)
P14L (p.Pro14Leu) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P14L (p.Pro14Leu) variant details
- p.Pro14Leu
- gnomAD rs1440831777
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.14
- MetaLR 0.29
- MetaSVM -0.85
- CADD 6.33
- PolyPhen-2 0.00
- SIFT 0.80
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.8e-05)
- Structural context available