M13I (p.Met13Ile) variant of SGCD (Delta-sarcoglycan)
M13I (p.Met13Ile) in SGCD (Delta-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
M13I (p.Met13Ile) variant details
- p.Met13Ile
- rs1281906026
- ClinGen CA362007577
- cosmic curated COSV61916
- ClinVar RCV001768711
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- ESM-1b 0.00
- AlphaMissense 0.22
- MetaLR 0.34
- MetaSVM -0.50
- PolyPhen-2 0.27
- SIFT 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available