G10A (p.Gly10Ala) variant of EPCAM (P16422)
G10A (p.Gly10Ala) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
G10A (p.Gly10Ala) variant details
- p.Gly10Ala
- TOPMed rs1237227676
- gnomAD rs1237227676
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- CADD 8.19
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available