P30P (p.Pro30Pro) variant of SGCA (Alpha-sarcoglycan)
P30P (p.Pro30Pro) in SGCA (Alpha-sarcoglycan) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
P30P (p.Pro30Pro) variant details
- p.Pro30Pro
- rs754840688
- gnomAD 17-50167420-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0995
- CADD 2.66
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- Literature evidence available