D4A (p.Asp4Ala) variant of COMP (P49747)
D4A (p.Asp4Ala) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome; Multiple epiphyseal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
D4A (p.Asp4Ala) variant details
- p.Asp4Ala
- rs370458957
- ClinGen CA9316861
- cosmic curated COSV99721
- ClinVar RCV001122041
- Conflicting interpretations
- Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome; Multiple epiphyseal
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.04
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Conflicting classifications of pathogenicity (Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome; Mul)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.0014)
- 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)