T18S (p.Thr18Ser) variant of COL11A1 (Collagen alpha-1(XI) chain)
T18S (p.Thr18Ser) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
T18S (p.Thr18Ser) variant details
- p.Thr18Ser
- rs114630202
- ClinGen CA975584
- ClinVar RCV000732953
- ClinVar RCV000830594
- Conflicting interpretations
- not provided; not specified; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.95
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BIAKA population (allele frequency 0.091)
- 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)