S11T (p.Ser11Thr) variant of SGCD (Delta-sarcoglycan)
S11T (p.Ser11Thr) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S11T (p.Ser11Thr) variant details
- p.Ser11Thr
- gnomAD 5-156344520-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 16.10
- PolyPhen-2 0.03
- SIFT 0.45
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available