P11T (p.Pro11Thr) variant of CPT2 (P23786)
P11T (p.Pro11Thr) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P11T (p.Pro11Thr) variant details
- p.Pro11Thr
- TOPMed rs1269785736
- gnomAD rs1269785736
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.18
- MetaLR 0.33
- MetaSVM -0.81
- CADD 10.80
- PolyPhen-2 0.01
- SIFT 0.67
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available