L23F (p.Leu23Phe) variant of GYS2 (P54840)
L23F (p.Leu23Phe) 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 0.31 / 1. The record also includes population frequency data and structural context.
L23F (p.Leu23Phe) variant details
- p.Leu23Phe
- rs750040511
- NCI-TCGA Cosmic COSV5392
- ExAC rs750040511
- gnomAD rs750040511
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.20
- CADD 19.10
- PolyPhen-2 0.02
- SIFT 0.71
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available