Y22F (p.Tyr22Phe) variant of SGCD (Delta-sarcoglycan)
Y22F (p.Tyr22Phe) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
Y22F (p.Tyr22Phe) variant details
- p.Tyr22Phe
- gnomAD 5-156344553-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.16
- CADD 23.40
- PolyPhen-2 0.98
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available