I154L (p.Ile154Leu) variant of GYS2 (P54840)
I154L (p.Ile154Leu) 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.
I154L (p.Ile154Leu) variant details
- p.Ile154Leu
- rs752480125
- NCI-TCGA Cosmic COSV9967
- Ensembl rs752480125
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.09
- ESM-1b 0.92
- AlphaMissense 0.15
- CADD 18.70
- PolyPhen-2 0.01
- SIFT 0.90
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available