A104G (p.Ala104Gly) variant of CHM (P24386)
A104G (p.Ala104Gly) in CHM (P24386) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A104G (p.Ala104Gly) variant details
- p.Ala104Gly
- rs11539374
- ClinGen CA10465613
- ClinVar RCV000591547
- ClinVar RCV000875812
- Conflicting interpretations
- Inborn genetic diseases; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.25
- AlphaMissense 0.14
- MetaLR 0.31
- MetaSVM -0.52
- CADD 20.00
- PolyPhen-2 0.02
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; not specified)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MSL population (allele frequency 0.017)
- 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)