H122R (p.His122Arg) variant of CHM (P24386)
H122R (p.His122Arg) in CHM (P24386) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
H122R (p.His122Arg) variant details
- p.His122Arg
- rs765999807
- ClinGen CA10465586
- ClinVar RCV002835843
- ClinVar RCV005099717
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.04
- MetaLR 0.09
- MetaSVM -1.03
- CADD 9.50
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.0076)
- 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)