T52A (p.Thr52Ala) variant of PTPRC (P08575)
T52A (p.Thr52Ala) in PTPRC (P08575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; not provided; Immunodeficiency 104. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
T52A (p.Thr52Ala) variant details
- p.Thr52Ala
- rs114764326
- ClinGen CA1314421
- ClinVar RCV000640075
- ClinVar RCV003420122
- Benign/Likely benign
- Inborn genetic diseases; not provided; Immunodeficiency 104
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.03
- CADD 9.05
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Benign/Likely benign (Inborn genetic diseases; not provided; Immunodeficiency 104)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MBUTI population (allele frequency 0.21)
- 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)