S161G (p.Ser161Gly) variant of CHM (P24386)
S161G (p.Ser161Gly) 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 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
S161G (p.Ser161Gly) variant details
- p.Ser161Gly
- rs748810856
- ClinGen CA10465573
- ClinVar RCV001046170
- ClinVar RCV005318583
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.05
- MetaLR 0.18
- MetaSVM -0.90
- CADD 8.56
- PolyPhen-2 0.06
- SIFT 0.13
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 6.6e-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)