D124N (p.Asp124Asn) variant of ETV5 (ETS translocation variant 5)
D124N (p.Asp124Asn) in ETV5 (ETS translocation variant 5) 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 0.49 / 1. The record also includes population frequency data.
D124N (p.Asp124Asn) variant details
- p.Asp124Asn
- rs377678658
- ClinGen CA2742650
- ClinVar RCV004275312
- ESP rs377678658
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.25
- CADD 28.80
- PolyPhen-2 0.92
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00029)