K116N (p.Lys116Asn) variant of ETV1 (ETS translocation variant 1)
K116N (p.Lys116Asn) 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 0.44 / 1. The record also includes population frequency data and structural context.
K116N (p.Lys116Asn) variant details
- p.Lys116Asn
- rs775525239
- ClinGen CA4167102
- cosmic curated COSV54141
- ClinVar RCV004383130
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.19
- CADD 25.80
- PolyPhen-2 0.91
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available