A44T (p.Ala44Thr) variant of COL11A1 (Collagen alpha-1(XI) chain)
A44T (p.Ala44Thr) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Fibrochondrogenesis 1; Connective tissue disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A44T (p.Ala44Thr) variant details
- p.Ala44Thr
- rs150090939
- ClinGen CA975546
- cosmic curated COSV62178
- ClinVar RCV000279365
- Benign/Likely benign
- not provided; Fibrochondrogenesis 1; Connective tissue disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.13
- ESM-1b 1.00
- AlphaMissense 0.08
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.07
- ClinVar: Benign/Likely benign (not provided; Fibrochondrogenesis 1; Connective tissue disorder)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.1)
- Structural context available
- Cited in: Stickler Syndrome. (PMID 20301479)