D42N (p.Asp42Asn) variant of ETV5 (ETS translocation variant 5)
D42N (p.Asp42Asn) in ETV5 (ETS translocation variant 5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
D42N (p.Asp42Asn) variant details
- p.Asp42Asn
- rs1221002517
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10011
- gnomAD rs1221002517
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.45
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)