V17L (p.Val17Leu) variant of SGCD (Delta-sarcoglycan)
V17L (p.Val17Leu) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
V17L (p.Val17Leu) variant details
- p.Val17Leu
- cosmic curated COSV61916
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- ESM-1b 0.00
- AlphaMissense 0.10
- Structural context available