Y27Y (p.Tyr27Tyr) variant of SGCD (Delta-sarcoglycan)

Name: SGCD Y27Y (p.Tyr27Tyr) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-10-09
License: https://catvariant.com/terms-of-use

Y27Y (p.Tyr27Tyr) in SGCD (Delta-sarcoglycan) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.

Y27Y (p.Tyr27Tyr) variant details

p.Tyr27Tyr
rs1801193
gnomAD 5-156344569-T-C
Synonymous
Variant Prioritization Score for Impact Estimate 0.0887
CADD 1.14
Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
Structural context available
Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)
Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)