N49S (p.Asn49Ser) variant of COL11A1 (Collagen alpha-1(XI) chain)
N49S (p.Asn49Ser) 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 specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
N49S (p.Asn49Ser) variant details
- p.Asn49Ser
- rs145159429
- ClinGen CA975542
- ClinVar RCV000518863
- ClinVar RCV002525238
- Conflicting interpretations
- Inborn genetic diseases; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.08
- ESM-1b 0.23
- AlphaMissense 0.06
- CADD 11.20
- PolyPhen-2 0.00
- SIFT 0.93
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- 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)