A21A (p.Ala21Ala) variant of EPCAM (P16422)
A21A (p.Ala21Ala) in EPCAM (P16422) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A21A (p.Ala21Ala) variant details
- p.Ala21Ala
- rs549177672
- gnomAD 2-47369568-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.169
- CADD 8.14
- Most common in the HGDP:DAI population (allele frequency 0.062)
- Structural context available
- Literature evidence available