P16A (p.Pro16Ala) variant of GYS2 (P54840)
P16A (p.Pro16Ala) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P16A (p.Pro16Ala) variant details
- p.Pro16Ala
- ExAC rs747932329
- TOPMed rs747932329
- gnomAD rs747932329
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.20
- ESM-1b 0.33
- AlphaMissense 0.12
- CADD 18.80
- PolyPhen-2 0.11
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available