D72N (p.Asp72Asn) variant of ETV5 (ETS translocation variant 5)
D72N (p.Asp72Asn) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
D72N (p.Asp72Asn) variant details
- p.Asp72Asn
- ExAC rs751536392
- gnomAD rs751536392
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.46
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)