A15S (p.Ala15Ser) variant of CPT2 (P23786)
A15S (p.Ala15Ser) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A15S (p.Ala15Ser) variant details
- p.Ala15Ser
- gnomAD 1-53196986-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.19
- MetaLR 0.35
- MetaSVM -0.76
- CADD 9.10
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- Literature evidence available