K81N (p.Lys81Asn) variant of PYGM (P11217)
K81N (p.Lys81Asn) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
K81N (p.Lys81Asn) variant details
- p.Lys81Asn
- TOPMed rs2058420115
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 1.00
- Structural context available