H9Q (p.His9Gln) variant of SGCD (Delta-sarcoglycan)
H9Q (p.His9Gln) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
H9Q (p.His9Gln) variant details
- p.His9Gln
- gnomAD 5-156344515-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 15.70
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available