W35R (p.Trp35Arg) variant of GYS2 (P54840)
W35R (p.Trp35Arg) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
W35R (p.Trp35Arg) variant details
- p.Trp35Arg
- gnomAD rs1944784970
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 29.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available