S207A (p.Ser207Ala) variant of ETS1 (Protein C-ets-1)
S207A (p.Ser207Ala) in ETS1 (Protein C-ets-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S207A (p.Ser207Ala) variant details
- p.Ser207Ala
- rs750489144
- gnomAD 11-128485027-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.10
- MetaLR 0.14
- MetaSVM -0.99
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available
- Literature evidence available