A20S (p.Ala20Ser) variant of CPT2 (P23786)
A20S (p.Ala20Ser) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- gnomAD rs1454666206
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.10
- MetaLR 0.32
- MetaSVM -0.83
- CADD 10.50
- PolyPhen-2 0.00
- SIFT 0.68
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available