G69V (p.Gly69Val) variant of COL11A1 (Collagen alpha-1(XI) chain)
G69V (p.Gly69Val) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G69V (p.Gly69Val) variant details
- p.Gly69Val
- rs758610033
- ClinGen CA975529
- NCI-TCGA Cosmic COSV6218
- cosmic curated COSV62185
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.50
- ESM-1b 1.00
- AlphaMissense 0.09
- CADD 18.70
- PolyPhen-2 0.15
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 7.2e-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)