T24A (p.Thr24Ala) variant of CPS1 (P31327)
T24A (p.Thr24Ala) in CPS1 (P31327) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
T24A (p.Thr24Ala) variant details
- p.Thr24Ala
- rs752849933
- ClinGen CA2085930
- ClinVar RCV003195439
- ExAC rs752849933
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.34
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- 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)