S14C (p.Ser14Cys) variant of EPHA3 (Ephrin type-A receptor 3)
S14C (p.Ser14Cys) in EPHA3 (Ephrin type-A receptor 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S14C (p.Ser14Cys) variant details
- p.Ser14Cys
- gnomAD 3-89107789-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.12
- CADD 19.00
- PolyPhen-2 0.04
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available