A6D (p.Ala6Asp) variant of COL2A1 (Collagen alpha-1(II) chain)
A6D (p.Ala6Asp) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Connective tissue disorder; not provided; Stickler syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A6D (p.Ala6Asp) variant details
- p.Ala6Asp
- rs369359592
- ClinGen CA6536122
- ClinVar RCV000283912
- ClinVar RCV000896145
- Benign/Likely benign
- Connective tissue disorder; not provided; Stickler syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.29
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.71
- ClinVar: Benign/Likely benign (Connective tissue disorder; not provided; Stickler syndrome type)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Stickler Syndrome. (PMID 20301479)
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)