L667F (p.Leu667Phe) variant of COL2A1 (Collagen alpha-1(II) chain)
L667F (p.Leu667Phe) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Stickler syndrome, type I, nonsyndromic ocular. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
L667F (p.Leu667Phe) variant details
- p.Leu667Phe
- rs121912885
- ClinGen CA127165
- cosmic curated COSV10967
- ClinVar RCV000018927
- Pathogenic
- Stickler syndrome, type I, nonsyndromic ocular
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.82
- CADD 25.60
- PolyPhen-2 0.54
- SIFT 0.02
- ClinVar: Pathogenic (Stickler syndrome, type I, nonsyndromic ocular)
- EBI: Pathogenic (in DRRD)
- UniProt: Pathogenic (in DRRD)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X… (PMID 11007540)
- Cited in: A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment. (PMID 15671297)