M35I (p.Met35Ile) variant of SETD1B (Q9UPS6)
M35I (p.Met35Ile) in SETD1B (Q9UPS6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
M35I (p.Met35Ile) variant details
- p.Met35Ile
- rs971066640
- ClinGen CA244632292
- ClinVar RCV002798552
- TOPMed rs971066640
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.73
- CADD 18.90
- PolyPhen-2 0.02
- SIFT 1.00
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0011)
- 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)