P48S (p.Pro48Ser) variant of EPHA3 (Ephrin type-A receptor 3)
P48S (p.Pro48Ser) in EPHA3 (Ephrin type-A receptor 3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
P48S (p.Pro48Ser) variant details
- p.Pro48Ser
- NCI-TCGA Cosmic COSV6069
- cosmic curated COSV60698
- NCI-TCGA Cosmic COSV6072
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.27
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available