N48I (p.Asn48Ile) variant of SGCD (Delta-sarcoglycan)
N48I (p.Asn48Ile) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
N48I (p.Asn48Ile) variant details
- p.Asn48Ile
- gnomAD 5-156344631-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available