S6A (p.Ser6Ala) variant of EPHA3 (Ephrin type-A receptor 3)
S6A (p.Ser6Ala) in EPHA3 (Ephrin type-A receptor 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
S6A (p.Ser6Ala) variant details
- p.Ser6Ala
- Ensembl rs1707005715
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.13
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.90
- Population evidence available
- Structural context available