T39N (p.Thr39Asn) variant of SGCA (Alpha-sarcoglycan)
T39N (p.Thr39Asn) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T39N (p.Thr39Asn) variant details
- p.Thr39Asn
- gnomAD 17-50167446-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.38
- CADD 16.80
- PolyPhen-2 0.13
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available