S2I (p.Ser2Ile) variant of ACAD9 (Q9H845)
S2I (p.Ser2Ile) 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 0.20 / 1. The record also includes population frequency data and structural context.
S2I (p.Ser2Ile) variant details
- p.Ser2Ile
- rs761385146
- ClinGen CA354429491
- ClinVar RCV003835514
- ExAC rs761385146
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.27
- CADD 9.04
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available