S26I (p.Ser26Ile) variant of CPT2 (P23786)
S26I (p.Ser26Ile) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S26I (p.Ser26Ile) variant details
- p.Ser26Ile
- gnomAD 1-53197020-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.32
- MetaLR 0.32
- MetaSVM -0.34
- CADD 23.30
- PolyPhen-2 0.07
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available