W54R (p.Trp54Arg) variant of SGCD (Delta-sarcoglycan)
W54R (p.Trp54Arg) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
W54R (p.Trp54Arg) variant details
- p.Trp54Arg
- gnomAD 5-156344648-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available