P9T (p.Pro9Thr) variant of SGCA (Alpha-sarcoglycan)
P9T (p.Pro9Thr) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
P9T (p.Pro9Thr) variant details
- p.Pro9Thr
- gnomAD rs1420118468
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.16
- CADD 2.90
- PolyPhen-2 0.04
- SIFT 0.58
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available