T97S (p.Thr97Ser) variant of COL17A1 (Collagen alpha-1(XVII) chain)
T97S (p.Thr97Ser) 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 Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and published literature.
T97S (p.Thr97Ser) variant details
- p.Thr97Ser
- rs139344319
- ClinGen CA378081191
- ClinVar RCV001931491
- ClinVar RCV005542592
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- CADD 23.80
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)