V58L (p.Val58Leu) variant of SGCA (Alpha-sarcoglycan)
V58L (p.Val58Leu) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Autosomal recessive limb-girdle muscular. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
V58L (p.Val58Leu) variant details
- p.Val58Leu
- rs141953249
- ClinGen CA8643728
- ClinVar RCV000593466
- ClinVar RCV001245320
- Uncertain significance
- Inborn genetic diseases; not provided; Autosomal recessive limb-girdle muscular
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.18
- CADD 3.66
- PolyPhen-2 0.07
- SIFT 0.47
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Autosomal recessive limb-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.045)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)