A11T (p.Ala11Thr) variant of PDGFRB (P09619)
A11T (p.Ala11Thr) in PDGFRB (P09619) 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 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- rs199730626
- ClinGen CA3508452
- ClinVar RCV002970526
- 1000Genomes rs199730626
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.01
- CADD 11.30
- PolyPhen-2 0.01
- SIFT 0.44
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00022)
- 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)