V131I (p.Val131Ile) variant of COL11A1 (Collagen alpha-1(XI) chain)
V131I (p.Val131Ile) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
V131I (p.Val131Ile) variant details
- p.Val131Ile
- rs1158320165
- ClinGen CA341167836
- ClinVar RCV002659034
- ClinVar RCV005321210
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.26
- ESM-1b 0.18
- AlphaMissense 0.08
- CADD 20.60
- PolyPhen-2 0.03
- SIFT 0.25
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)