F6I (p.Phe6Ile) variant of SGCA (Alpha-sarcoglycan)
F6I (p.Phe6Ile) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
F6I (p.Phe6Ile) variant details
- p.Phe6Ile
- gnomAD 17-50166056-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.19
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.69
- Population evidence available
- Structural context available
- Literature evidence available