K57N (p.Lys57Asn) variant of SGCD (Delta-sarcoglycan)
K57N (p.Lys57Asn) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes population frequency data and structural context.
K57N (p.Lys57Asn) variant details
- p.Lys57Asn
- TOPMed rs991798922
- Missense
- Variant Prioritization Score for Impact Estimate 0.974
- ESM-1b 1.00
- AlphaMissense 0.94
- Population evidence available
- Structural context available