V38V (p.Val38Val) variant of SGCD (Delta-sarcoglycan)
V38V (p.Val38Val) in SGCD (Delta-sarcoglycan) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
V38V (p.Val38Val) variant details
- p.Val38Val
- rs1768850599
- gnomAD 5-156344602-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.156
- CADD 8.13
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available