Y35H (p.Tyr35His) variant of SGCD (Delta-sarcoglycan)
Y35H (p.Tyr35His) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Y35H (p.Tyr35His) variant details
- p.Tyr35His
- gnomAD 5-156344591-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available