R10W (p.Arg10Trp) variant of SGCD (Delta-sarcoglycan)
R10W (p.Arg10Trp) 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 specified; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R10W (p.Arg10Trp) variant details
- p.Arg10Trp
- rs566181541
- ClinGen CA3530471
- NCI-TCGA Cosmic COSV6191
- cosmic curated COSV61911
- Uncertain significance
- not specified; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- ESM-1b 1.00
- AlphaMissense 0.26
- MetaLR 0.73
- MetaSVM 0.51
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified; Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)