T10I (p.Thr10Ile) variant of ACAD9 (Q9H845)
T10I (p.Thr10Ile) 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 0.22 / 1. The record also includes population frequency data and structural context.
T10I (p.Thr10Ile) variant details
- p.Thr10Ile
- rs1278517422
- ClinGen CA354429541
- ClinVar RCV002615801
- gnomAD rs1278517422
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.19
- CADD 8.47
- PolyPhen-2 0.01
- SIFT 0.28
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available