A137V (p.Ala137Val) variant of GYS2 (P54840)
A137V (p.Ala137Val) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A137V (p.Ala137Val) variant details
- p.Ala137Val
- ExAC rs781699106
- gnomAD rs781699106
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.42
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available