V20I (p.Val20Ile) variant of GYS2 (P54840)
V20I (p.Val20Ile) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V20I (p.Val20Ile) variant details
- p.Val20Ile
- TOPMed rs1944786001
- gnomAD rs1944786001
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 16.50
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available