G936S (p.Gly936Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G936S (p.Gly936Ser) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Type 2 collagenopathy; Stickler syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G936S (p.Gly936Ser) variant details
- p.Gly936Ser
- rs777615798
- ClinGen CA6534978
- NCI-TCGA Cosmic COSV6152
- cosmic curated COSV61528
- Conflicting interpretations
- not provided; Type 2 collagenopathy; Stickler syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.97
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Stickler syndrome type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- 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)