A50P (p.Ala50Pro) variant of SGCD (Delta-sarcoglycan)
A50P (p.Ala50Pro) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A50P (p.Ala50Pro) variant details
- p.Ala50Pro
- gnomAD 5-156344636-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available