P31R (p.Pro31Arg) variant of CPT2 (P23786)
P31R (p.Pro31Arg) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P31R (p.Pro31Arg) variant details
- p.Pro31Arg
- TOPMed rs1645327501
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.23
- MetaLR 0.39
- MetaSVM -0.42
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 6.5e-06)
- Structural context available