V17V (p.Val17Val) variant of SGCD (Delta-sarcoglycan)
V17V (p.Val17Val) in SGCD (Delta-sarcoglycan) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
V17V (p.Val17Val) variant details
- p.Val17Val
- rs756970013
- gnomAD 5-156344539-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.228
- CADD 4.97
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available