P49P (p.Pro49Pro) variant of SGCA (Alpha-sarcoglycan)
P49P (p.Pro49Pro) in SGCA (Alpha-sarcoglycan) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P49P (p.Pro49Pro) variant details
- p.Pro49Pro
- rs745447270
- gnomAD 17-50167477-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0927
- CADD 1.70
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available