T141M (p.Thr141Met) variant of CHM (P24386)
T141M (p.Thr141Met) in CHM (P24386) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases; not provided. 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.
T141M (p.Thr141Met) variant details
- p.Thr141Met
- rs149749273
- ClinGen CA10465579
- ClinVar RCV001495730
- ClinVar RCV005540460
- Likely benign
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.106
- REVEL 0.08
- MetaLR 0.11
- MetaSVM -0.99
- CADD 2.71
- PolyPhen-2 0.15
- SIFT 0.07
- ClinVar: Likely benign (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 9.7e-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)