S6P (p.Ser6Pro) variant of EPHA3 (Ephrin type-A receptor 3)
S6P (p.Ser6Pro) in EPHA3 (Ephrin type-A receptor 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S6P (p.Ser6Pro) variant details
- p.Ser6Pro
- cosmic curated COSV10590
- Ensembl rs1707005715
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.21
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.22
- Population evidence available
- Structural context available