S11R (p.Ser11Arg) variant of SGCD (Delta-sarcoglycan)
S11R (p.Ser11Arg) 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.
S11R (p.Ser11Arg) variant details
- p.Ser11Arg
- gnomAD 5-156344521-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.41
- CADD 21.80
- PolyPhen-2 0.07
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available