F74L (p.Phe74Leu) variant of ADNP (Q9H2P0)
F74L (p.Phe74Leu) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
F74L (p.Phe74Leu) variant details
- p.Phe74Leu
- TOPMed rs1158820341
- gnomAD rs1158820341
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 23.30
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available