P6R (p.Pro6Arg) variant of SETD1B (Q9UPS6)
P6R (p.Pro6Arg) in SETD1B (Q9UPS6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Intellectual developmental disorder with seizures and l. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P6R (p.Pro6Arg) variant details
- p.Pro6Arg
- rs553235589
- ClinGen CA386986786
- ClinVar RCV003493152
- ClinVar RCV004961341
- Uncertain significance
- Inborn genetic diseases; Intellectual developmental disorder with seizures and l
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.23
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Intellectual developmental disorder wit)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.9e-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)