D38N (p.Asp38Asn) variant of ETV1 (ETS translocation variant 1)
D38N (p.Asp38Asn) in ETV1 (ETS translocation variant 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
D38N (p.Asp38Asn) variant details
- p.Asp38Asn
- rs972620421
- ClinGen CA154005924
- cosmic curated COSV10637
- ClinVar RCV004227204
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.27
- CADD 29.10
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available