G171V (p.Gly171Val) variant of COL2A1 (Collagen alpha-1(II) chain)
G171V (p.Gly171Val) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Type 2 collagenopathy; Stickler syndrome type 1; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G171V (p.Gly171Val) variant details
- p.Gly171Val
- rs928430270
- ClinGen CA236492724
- ClinVar RCV001111051
- ClinVar RCV002556170
- Uncertain significance
- Type 2 collagenopathy; Stickler syndrome type 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.96
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.08
- ClinVar: Uncertain significance (Type 2 collagenopathy; Stickler syndrome type 1; Inborn genetic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)