V38A (p.Val38Ala) variant of SGCD (Delta-sarcoglycan)
V38A (p.Val38Ala) 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; Autosomal recessive limb-girdle muscular dystrophy type 2F; Dilate. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
V38A (p.Val38Ala) variant details
- p.Val38Ala
- rs794729164
- ClinGen CA308782
- ClinVar RCV000183900
- ClinVar RCV001852377
- Uncertain significance
- not provided; Autosomal recessive limb-girdle muscular dystrophy type 2F; Dilate
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.91
- MetaSVM 1.02
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Autosomal recessive limb-girdle muscular dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available