N132K (p.Asn132Lys) variant of COMP (P49747)
N132K (p.Asn132Lys) in COMP (P49747) 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
N132K (p.Asn132Lys) variant details
- p.Asn132Lys
- rs200638121
- 1000Genomes rs200638121
- ESP rs200638121
- ExAC rs200638121
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 17.60
- PolyPhen-2 0.01
- SIFT 0.92
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 6.6e-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)