F37I (p.Phe37Ile) variant of SGCD (Delta-sarcoglycan)
F37I (p.Phe37Ile) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
F37I (p.Phe37Ile) variant details
- p.Phe37Ile
- gnomAD 5-156344594-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.72
- CADD 22.80
- PolyPhen-2 0.39
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available