D20G (p.Asp20Gly) variant of SGCA (Alpha-sarcoglycan)
D20G (p.Asp20Gly) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
D20G (p.Asp20Gly) variant details
- p.Asp20Gly
- gnomAD 17-50167389-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.16
- CADD 0.18
- PolyPhen-2 0.00
- SIFT 0.65
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available