A53G (p.Ala53Gly) variant of SGCA (Alpha-sarcoglycan)
A53G (p.Ala53Gly) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A53G (p.Ala53Gly) variant details
- p.Ala53Gly
- gnomAD 17-50167582-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.26
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.57
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available