K31E (p.Lys31Glu) variant of SGCD (Delta-sarcoglycan)
K31E (p.Lys31Glu) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
K31E (p.Lys31Glu) variant details
- p.Lys31Glu
- ExAC rs757073458
- gnomAD rs757073458
- Missense
- Variant Prioritization Score for Impact Estimate 0.997
- ESM-1b 1.00
- AlphaMissense 0.99
- Structural context available