H51L (p.His51Leu) variant of SGCA (Alpha-sarcoglycan)
H51L (p.His51Leu) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
H51L (p.His51Leu) variant details
- p.His51Leu
- TOPMed rs1444419358
- gnomAD rs1444419358
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.29
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available