L104I (p.Leu104Ile) variant of ABCC9 (O60706)
L104I (p.Leu104Ile) in ABCC9 (O60706) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
L104I (p.Leu104Ile) variant details
- p.Leu104Ile
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.75
- CADD 24.20
- PolyPhen-2 0.94
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available