P83L (p.Pro83Leu) variant of GYS2 (P54840)
P83L (p.Pro83Leu) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
P83L (p.Pro83Leu) variant details
- p.Pro83Leu
- ExAC rs745875719
- TOPMed rs745875719
- gnomAD rs745875719
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.39
- ESM-1b 1.00
- AlphaMissense 0.52
- CADD 27.00
- PolyPhen-2 0.72
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available