I60V (p.Ile60Val) variant of SGCA (Alpha-sarcoglycan)
I60V (p.Ile60Val) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
I60V (p.Ile60Val) variant details
- p.Ile60Val
- gnomAD 17-50167602-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.28
- CADD 0.17
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available