V140L (p.Val140Leu) variant of GYS2 (P54840)
V140L (p.Val140Leu) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
V140L (p.Val140Leu) variant details
- p.Val140Leu
- gnomAD rs1944441105
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.09
- ESM-1b 0.28
- AlphaMissense 0.24
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available