Y22N (p.Tyr22Asn) variant of SGCD (Delta-sarcoglycan)
Y22N (p.Tyr22Asn) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
Y22N (p.Tyr22Asn) variant details
- p.Tyr22Asn
- gnomAD 5-156344552-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.38
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available