Q5R (p.Gln5Arg) variant of EPCAM (P16422)
Q5R (p.Gln5Arg) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
Q5R (p.Gln5Arg) variant details
- p.Gln5Arg
- gnomAD 2-47369519-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.09
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 0.68
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available