Q5P (p.Gln5Pro) variant of SGCD (Delta-sarcoglycan)
Q5P (p.Gln5Pro) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
Q5P (p.Gln5Pro) variant details
- p.Gln5Pro
- gnomAD 5-156344502-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 28.10
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available