S128T (p.Ser128Thr) variant of COL17A1 (Collagen alpha-1(XVII) chain)
S128T (p.Ser128Thr) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Junctional epidermolysis bullosa, non-Herlitz type; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and published literature.
S128T (p.Ser128Thr) variant details
- p.Ser128Thr
- rs776673961
- ClinGen CA5679451
- ClinVar RCV001106002
- ClinVar RCV005540277
- Uncertain significance
- Junctional epidermolysis bullosa, non-Herlitz type; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.13
- ClinVar: Uncertain significance (Junctional epidermolysis bullosa, non-Herlitz type; Inborn genet)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- 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)