T7S (p.Thr7Ser) variant of SGCD (Delta-sarcoglycan)
T7S (p.Thr7Ser) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
T7S (p.Thr7Ser) variant details
- p.Thr7Ser
- gnomAD 5-156344507-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available