P16T (p.Pro16Thr) variant of GYS2 (P54840)
P16T (p.Pro16Thr) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P16T (p.Pro16Thr) variant details
- p.Pro16Thr
- ExAC rs747932329
- TOPMed rs747932329
- gnomAD rs747932329
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.23
- ESM-1b 0.43
- AlphaMissense 0.14
- CADD 20.10
- PolyPhen-2 0.14
- SIFT 0.06
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available