S6C (p.Ser6Cys) variant of GYS2 (P54840)
S6C (p.Ser6Cys) in GYS2 (P54840) 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 0.51 / 1. The record also includes population frequency data and structural context.
S6C (p.Ser6Cys) variant details
- p.Ser6Cys
- rs141614479
- ESP rs141614479
- ExAC rs141614479
- TOPMed rs141614479
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.20
- CADD 24.30
- PolyPhen-2 0.89
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available