P11R (p.Pro11Arg) variant of CPT2 (P23786)
P11R (p.Pro11Arg) 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, published literature, and structural context.
P11R (p.Pro11Arg) variant details
- p.Pro11Arg
- gnomAD 1-53196975-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.28
- MetaLR 0.34
- MetaSVM -0.78
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available