D41N (p.Asp41Asn) variant of SGCA (Alpha-sarcoglycan)
D41N (p.Asp41Asn) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
D41N (p.Asp41Asn) variant details
- p.Asp41Asn
- 1000Genomes rs748694967
- ExAC rs748694967
- gnomAD rs748694967
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.45
- CADD 22.70
- PolyPhen-2 0.54
- SIFT 0.18
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available