S26N (p.Ser26Asn) variant of CPT2 (P23786)
S26N (p.Ser26Asn) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S26N (p.Ser26Asn) variant details
- p.Ser26Asn
- gnomAD 1-53197020-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.17
- MetaLR 0.35
- MetaSVM -0.43
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available