M171L (p.Met171Leu) variant of TBX3 (T-box transcription factor TBX3)
M171L (p.Met171Leu) in TBX3 (T-box transcription factor TBX3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and published literature.
M171L (p.Met171Leu) variant details
- p.Met171Leu
- rs905399897
- ClinGen CA244153171
- NCI-TCGA Cosmic COSV5746
- cosmic curated COSV57469
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.56
- CADD 27.70
- PolyPhen-2 0.42
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- 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)