K31K (p.Lys31Lys) variant of SGCD (Delta-sarcoglycan)
K31K (p.Lys31Lys) in SGCD (Delta-sarcoglycan) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
K31K (p.Lys31Lys) variant details
- p.Lys31Lys
- rs1198904722
- gnomAD 5-156344581-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.297
- CADD 9.39
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available