G13D (p.Gly13Asp) variant of GYS2 (P54840)
G13D (p.Gly13Asp) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G13D (p.Gly13Asp) variant details
- p.Gly13Asp
- ExAC rs772461189
- gnomAD rs772461189
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.26
- CADD 10.90
- PolyPhen-2 0.02
- SIFT 0.54
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available