L45S (p.Leu45Ser) variant of ABCC9 (O60706)
L45S (p.Leu45Ser) 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 0.81 / 1. The record also includes population frequency data and structural context.
L45S (p.Leu45Ser) variant details
- p.Leu45Ser
- NCI-TCGA Cosmic COSV5398
- cosmic curated COSV53983
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.93
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available