L30F (p.Leu30Phe) variant of GYS2 (P54840)
L30F (p.Leu30Phe) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L30F (p.Leu30Phe) variant details
- p.Leu30Phe
- TOPMed rs1944785094
- gnomAD rs1944785094
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.22
- ESM-1b 1.00
- AlphaMissense 0.44
- CADD 24.90
- PolyPhen-2 0.97
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available