I118V (p.Ile118Val) variant of COL11A1 (Collagen alpha-1(XI) chain)
I118V (p.Ile118Val) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
I118V (p.Ile118Val) variant details
- p.Ile118Val
- rs202212358
- ClinGen CA975475
- ClinVar RCV002474159
- ClinVar RCV004612176
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- 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)