P11S (p.Pro11Ser) variant of CPT2 (P23786)
P11S (p.Pro11Ser) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P11S (p.Pro11Ser) variant details
- p.Pro11Ser
- gnomAD 1-53196974-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.22
- MetaLR 0.27
- MetaSVM -0.84
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.74
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available