H51Q (p.His51Gln) variant of SGCA (Alpha-sarcoglycan)
H51Q (p.His51Gln) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
H51Q (p.His51Gln) variant details
- p.His51Gln
- gnomAD rs1388555738
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.35
- CADD 0.44
- PolyPhen-2 0.30
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available