H53Q (p.His53Gln) variant of FAS (P25445)
H53Q (p.His53Gln) in FAS (P25445) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
H53Q (p.His53Gln) variant details
- p.His53Gln
- rs754023764
- gnomAD 10-88989498-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0819
- CADD 0.18
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Literature evidence available