A9S (p.Ala9Ser) variant of CPT2 (P23786)
A9S (p.Ala9Ser) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A9S (p.Ala9Ser) variant details
- p.Ala9Ser
- gnomAD 1-53196968-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.23
- MetaLR 0.35
- MetaSVM -0.74
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.64
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available