N235K (p.Asn235Lys) variant of ETS1 (Protein C-ets-1)
N235K (p.Asn235Lys) in ETS1 (Protein C-ets-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
N235K (p.Asn235Lys) variant details
- p.Asn235Lys
- rs1229922877
- gnomAD 11-128484944-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0991
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.09
- CADD 12.90
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available