L101P (p.Leu101Pro) variant of SATB2 (DNA-binding protein SATB2)
L101P (p.Leu101Pro) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
L101P (p.Leu101Pro) variant details
- p.Leu101Pro
- rs2469034035
- ClinGen CA350386704
- ClinVar RCV004450254
- Likely pathogenic
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 1
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Likely pathogenic (Inborn genetic diseases)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)