P25L (p.Pro25Leu) variant of ETV6 (Transcription factor ETV6)
P25L (p.Pro25Leu) in ETV6 (Transcription factor ETV6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P25L (p.Pro25Leu) variant details
- p.Pro25Leu
- rs550013624
- ClinGen CA6454104
- ClinVar RCV001357659
- ClinVar RCV005330745
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.03
- CADD 21.10
- PolyPhen-2 0.03
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:KHV population (allele frequency 0.005)
- 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)