M67I (p.Met67Ile) variant of COMP (P49747)
M67I (p.Met67Ile) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
M67I (p.Met67Ile) variant details
- p.Met67Ile
- rs199553971
- 1000Genomes rs199553971
- ESP rs199553971
- ExAC rs199553971
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.75
- CADD 23.40
- PolyPhen-2 0.22
- SIFT 0.25
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:TSI 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)