G15V (p.Gly15Val) variant of SGCD (Delta-sarcoglycan)
G15V (p.Gly15Val) in SGCD (Delta-sarcoglycan) is a missense 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.
G15V (p.Gly15Val) variant details
- p.Gly15Val
- gnomAD 5-156344532-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 18.70
- PolyPhen-2 0.01
- SIFT 0.22
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available