H9Y (p.His9Tyr) variant of SGCD (Delta-sarcoglycan)
H9Y (p.His9Tyr) in SGCD (Delta-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive limb-girdle muscular dystrophy type 2F. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
H9Y (p.His9Tyr) variant details
- p.His9Tyr
- rs2127716448
- ClinGen CA362007549
- ClinVar RCV001992449
- Ensembl rs2127716448
- Uncertain significance
- Autosomal recessive limb-girdle muscular dystrophy type 2F
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.45
- MetaSVM -0.35
- CADD 23.10
- ClinVar: Uncertain significance (Autosomal recessive limb-girdle muscular dystrophy type 2F)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available