D32Y (p.Asp32Tyr) variant of SPTBN2 (O15020)
D32Y (p.Asp32Tyr) in SPTBN2 (O15020) 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 0.49 / 1. The record also includes population frequency data and published literature.
D32Y (p.Asp32Tyr) variant details
- p.Asp32Tyr
- rs935849810
- ClinGen CA224101627
- ClinVar RCV002892600
- TOPMed rs935849810
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.28
- CADD 25.90
- PolyPhen-2 0.59
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- 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)