K131N (p.Lys131Asn) variant of GYS2 (P54840)
K131N (p.Lys131Asn) 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.
K131N (p.Lys131Asn) variant details
- p.Lys131Asn
- ESP rs373285780
- TOPMed rs373285780
- gnomAD rs373285780
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 23.60
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available