A16S (p.Ala16Ser) variant of SGCA (Alpha-sarcoglycan)
A16S (p.Ala16Ser) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A16S (p.Ala16Ser) variant details
- p.Ala16Ser
- gnomAD 17-50167376-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.36
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available