S11G (p.Ser11Gly) variant of SGCD (Delta-sarcoglycan)
S11G (p.Ser11Gly) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S11G (p.Ser11Gly) variant details
- p.Ser11Gly
- rs367557986
- gnomAD 5-156344519-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.43
- MetaSVM -0.56
- CADD 18.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available