Y107C (p.Tyr107Cys) variant of ABCC8 (Q09428)
Y107C (p.Tyr107Cys) in ABCC8 (Q09428) 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.
Y107C (p.Tyr107Cys) variant details
- p.Tyr107Cys
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10021
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.81
- AlphaMissense 0.07
- MetaLR 0.24
- MetaSVM -0.44
- CADD 25.40
- PolyPhen-2 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available