H90D (p.His90Asp) variant of COMP (P49747)
H90D (p.His90Asp) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
H90D (p.His90Asp) variant details
- p.His90Asp
- rs757546301
- ClinGen CA306260535
- ClinVar RCV002712505
- ExAC rs757546301
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 10.60
- PolyPhen-2 0.01
- SIFT 0.36
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00039)
- 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)