D6N (p.Asp6Asn) variant of ETS1 (Protein C-ets-1)
D6N (p.Asp6Asn) in ETS1 (Protein C-ets-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D6N (p.Asp6Asn) variant details
- p.Asp6Asn
- cosmic curated COSV60092
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.08
- MetaLR 0.04
- MetaSVM -1.11
- CADD 23.70
- PolyPhen-2 0.26
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- ETS1 Pointed domain domainome 1.0: score -0.0579