T72S (p.Thr72Ser) variant of COL11A1 (Collagen alpha-1(XI) chain)
T72S (p.Thr72Ser) 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 specified; not provided; Fibrochondrogenesis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
T72S (p.Thr72Ser) variant details
- p.Thr72Ser
- rs56230601
- ClinGen CA221845
- ClinVar RCV000079907
- ClinVar RCV000269415
- Conflicting interpretations
- not specified; not provided; Fibrochondrogenesis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.16
- ESM-1b 0.56
- AlphaMissense 0.07
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Fibrochondrogenesis 1)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Focused Revision: ACMG practice resource: Genetic evaluation of short stature. (PMID 33514815)
- Cited in: Stickler Syndrome. (PMID 20301479)