I66V (p.Ile66Val) variant of GYS2 (P54840)
I66V (p.Ile66Val) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
I66V (p.Ile66Val) variant details
- p.Ile66Val
- ExAC rs767709466
- gnomAD rs767709466
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 18.20
- PolyPhen-2 0.02
- SIFT 0.39
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available