M42I (p.Met42Ile) variant of SGCD (Delta-sarcoglycan)
M42I (p.Met42Ile) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
M42I (p.Met42Ile) variant details
- p.Met42Ile
- gnomAD 5-156344614-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.62
- ESM-1b 0.44
- AlphaMissense 0.94
- CADD 22.50
- PolyPhen-2 0.23
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available