A25T (p.Ala25Thr) variant of CNTNAP2 (Q9UHC6)
A25T (p.Ala25Thr) in CNTNAP2 (Q9UHC6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A25T (p.Ala25Thr) variant details
- p.Ala25Thr
- rs200866893
- ClinGen CA233775
- ClinVar RCV000513738
- ClinVar RCV000764694
- Conflicting interpretations
- Inborn genetic diseases; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.29
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.64
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- 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)