S120C (p.Ser120Cys) variant of SLC25A20 (O43772)
S120C (p.Ser120Cys) in SLC25A20 (O43772) 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.
S120C (p.Ser120Cys) variant details
- p.Ser120Cys
- NCI-TCGA Cosmic COSV1000
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.86
- MetaLR 0.69
- MetaSVM 0.46
- CADD 27.60
- PolyPhen-2 0.99
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available