M13V (p.Met13Val) variant of SGCD (Delta-sarcoglycan)
M13V (p.Met13Val) 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 0.30 / 1. The record also includes population frequency data and structural context.
M13V (p.Met13Val) variant details
- p.Met13Val
- rs903232864
- ClinGen CA130594216
- NCI-TCGA Cosmic COSV6190
- cosmic curated COSV61905
- Uncertain significance
- Autosomal recessive limb-girdle muscular dystrophy type 2F
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.26
- MetaSVM -0.65
- PolyPhen-2 0.02
- SIFT 1.00
- ClinVar: Uncertain significance (Autosomal recessive limb-girdle muscular dystrophy type 2F)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available