S120F (p.Ser120Phe) variant of ABCC8 (Q09428)
S120F (p.Ser120Phe) 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 0.68 / 1. The record also includes population frequency data and structural context.
S120F (p.Ser120Phe) variant details
- p.Ser120Phe
- rs1222549831
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10021
- gnomAD rs1222549831
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.78
- AlphaMissense 0.13
- MetaLR 0.30
- MetaSVM -0.76
- CADD 27.80
- PolyPhen-2 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available