P138S (p.Pro138Ser) variant of COMP (P49747)
P138S (p.Pro138Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P138S (p.Pro138Ser) variant details
- p.Pro138Ser
- rs763966726
- ClinGen CA404896643
- cosmic curated COSV10502
- ClinVar RCV004437770
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.15
- ESM-1b 1.00
- AlphaMissense 0.11
- CADD 24.10
- PolyPhen-2 0.81
- SIFT 0.35
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)