N48D (p.Asn48Asp) variant of SGCD (Delta-sarcoglycan)
N48D (p.Asn48Asp) in SGCD (Delta-sarcoglycan) 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.
N48D (p.Asn48Asp) variant details
- p.Asn48Asp
- TOPMed rs1156316973
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 0.99
- Structural context available