A27S (p.Ala27Ser) variant of CPT2 (P23786)
A27S (p.Ala27Ser) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A27S (p.Ala27Ser) variant details
- p.Ala27Ser
- gnomAD 1-53197022-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.22
- MetaLR 0.29
- MetaSVM -0.85
- CADD 8.47
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.7e-05)
- Structural context available
- Literature evidence available