S2G (p.Ser2Gly) variant of ACAD9 (Q9H845)
S2G (p.Ser2Gly) in ACAD9 (Q9H845) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S2G (p.Ser2Gly) variant details
- p.Ser2Gly
- rs2529221146
- ClinGen CA354429489
- ClinVar RCV002766439
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.27
- CADD 10.10
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available