H9R (p.His9Arg) variant of SGCD (Delta-sarcoglycan)
H9R (p.His9Arg) 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.
H9R (p.His9Arg) variant details
- p.His9Arg
- gnomAD 5-156344514-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 21.70
- PolyPhen-2 0.06
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available